SLC2A9 (solute carrier family 2 member 9) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SLC2A9 (solute carrier family 2 member 9) Homo sapiens
Analyze
Symbol: SLC2A9
Name: solute carrier family 2 member 9
RGD ID: 1351405
HGNC Page HGNC:13446
Description: Enables D-glucose transmembrane transporter activity; fructose transmembrane transporter activity; and urate transmembrane transporter activity. Involved in hexose transmembrane transport; urate metabolic process; and urate transport. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glucose transporter type 9; GLUT-9; GLUT9; GLUTX; human glucose transporter-like protein-9; solute carrier family 2 (facilitated glucose transporter), member 9; solute carrier family 2, facilitated glucose transporter member 9; UAQTL2; urate transporter; urate voltage-driven efflux transporter 1; URATv1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3849,771,025 - 10,040,270 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl49,771,153 - 10,054,936 (-)EnsemblGRCh38hg38GRCh38
GRCh3749,827,848 - 10,041,894 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3649,436,946 - 9,650,970 (-)NCBINCBI36Build 36hg18NCBI36
Build 3449,504,117 - 9,699,383NCBI
Celera410,310,714 - 10,524,222 (-)NCBICelera
Cytogenetic Map4p16.1NCBI
HuRef49,162,269 - 9,375,568 (-)NCBIHuRef
CHM1_149,825,801 - 10,040,024 (-)NCBICHM1_1
T2T-CHM13v2.049,770,809 - 10,039,839 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (EXP)
allopurinol  (ISO)
alpha-Zearalanol  (ISO)
angelicin  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzbromarone  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
cisplatin  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
eupatilin  (ISO)
fructose  (EXP,ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glucose  (EXP)
glyphosate  (ISO)
hydralazine  (EXP)
hypoxanthine  (ISO)
imperatorin  (ISO)
isoimperatorin  (ISO)
losartan  (ISO)
methoxsalen  (ISO)
methoxychlor  (ISO)
O-methyleugenol  (EXP)
okadaic acid  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phloretin  (ISO)
Potassium 2,6-dihydroxytriazinecarboxylate  (ISO)
potassium chloride  (EXP)
probenecid  (ISO)
psoralen  (ISO)
quercetin  (EXP,ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
rutin  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trans-piceid  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10860667   PMID:10970791   PMID:11739520   PMID:11991658   PMID:12477932   PMID:12554125   PMID:14702039   PMID:14739288   PMID:15203218   PMID:15252450   PMID:15489334   PMID:17710649  
PMID:17997608   PMID:18172662   PMID:18177733   PMID:18179892   PMID:18327256   PMID:18327257   PMID:18398472   PMID:18487473   PMID:18606621   PMID:18701466   PMID:18759275   PMID:18834626  
PMID:18842065   PMID:19026395   PMID:19260141   PMID:19503597   PMID:19593129   PMID:19679263   PMID:19723617   PMID:19797240   PMID:19808778   PMID:19833602   PMID:19877038   PMID:19890391  
PMID:19926891   PMID:20053405   PMID:20139978   PMID:20162742   PMID:20162743   PMID:20162744   PMID:20162745   PMID:20197412   PMID:20379614   PMID:20413573   PMID:20472486   PMID:20588307  
PMID:20589538   PMID:20714133   PMID:20800603   PMID:20884846   PMID:20926839   PMID:20972595   PMID:21186168   PMID:21256783   PMID:21294900   PMID:21511506   PMID:21536615   PMID:21584282  
PMID:21658257   PMID:21810765   PMID:21873635   PMID:21886157   PMID:21983786   PMID:22005930   PMID:22132964   PMID:22132990   PMID:22212408   PMID:22229870   PMID:22393348   PMID:22420403  
PMID:22527535   PMID:22566634   PMID:22647630   PMID:22753387   PMID:22797727   PMID:23263486   PMID:23272134   PMID:23302780   PMID:23349133   PMID:23361362   PMID:23703922   PMID:24026676  
PMID:24107611   PMID:24204615   PMID:24301058   PMID:24379826   PMID:24397858   PMID:24409316   PMID:24513273   PMID:24516586   PMID:24628802   PMID:24643436   PMID:24723238   PMID:24742479  
PMID:24805955   PMID:24816252   PMID:24821702   PMID:24858040   PMID:24940677   PMID:24972010   PMID:25128519   PMID:25132463   PMID:25209865   PMID:25257975   PMID:25268603   PMID:25275768  
PMID:25283508   PMID:25286413   PMID:25301104   PMID:25435339   PMID:25476142   PMID:25634581   PMID:25833971   PMID:25889045   PMID:25922070   PMID:26125895   PMID:26167684   PMID:26344197  
PMID:26345926   PMID:26500098   PMID:26552468   PMID:26603249   PMID:26607700   PMID:26714568   PMID:26902266   PMID:26993665   PMID:27052299   PMID:27225847   PMID:27255295   PMID:27456670  
PMID:27955673   PMID:27981520   PMID:28083649   PMID:28117388   PMID:28428355   PMID:28870626   PMID:28969476   PMID:29102777   PMID:29215084   PMID:29486147   PMID:29523220   PMID:29615104  
PMID:29789205   PMID:29879316   PMID:29956771   PMID:30315176   PMID:30350810   PMID:31016517   PMID:31131560   PMID:31257523   PMID:31378369   PMID:31695625   PMID:31841133   PMID:32166738  
PMID:32183743   PMID:32778763   PMID:32806975   PMID:33087043   PMID:33132325   PMID:33961781   PMID:34716863   PMID:34887389   PMID:35203284   PMID:36006548   PMID:36736875   PMID:36749388  
PMID:37176161   PMID:37308567   PMID:38150892  


Genomics

Comparative Map Data
SLC2A9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3849,771,025 - 10,040,270 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl49,771,153 - 10,054,936 (-)EnsemblGRCh38hg38GRCh38
GRCh3749,827,848 - 10,041,894 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3649,436,946 - 9,650,970 (-)NCBINCBI36Build 36hg18NCBI36
Build 3449,504,117 - 9,699,383NCBI
Celera410,310,714 - 10,524,222 (-)NCBICelera
Cytogenetic Map4p16.1NCBI
HuRef49,162,269 - 9,375,568 (-)NCBIHuRef
CHM1_149,825,801 - 10,040,024 (-)NCBICHM1_1
T2T-CHM13v2.049,770,809 - 10,039,839 (-)NCBIT2T-CHM13v2.0
Slc2a9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39538,506,616 - 38,660,488 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl538,506,616 - 38,660,486 (-)EnsemblGRCm39 Ensembl
GRCm38538,349,272 - 38,503,147 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl538,349,273 - 38,503,143 (-)EnsemblGRCm38mm10GRCm38
MGSCv37538,740,512 - 38,893,391 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36538,637,555 - 38,790,401 (-)NCBIMGSCv36mm8
Celera535,802,909 - 35,950,476 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map520.43NCBI
Slc2a9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81476,540,649 - 76,674,277 (+)NCBIGRCr8
mRatBN7.21472,328,334 - 72,461,981 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1472,328,320 - 72,461,981 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1476,790,316 - 76,903,628 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01478,031,186 - 78,144,522 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01474,471,251 - 74,584,577 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01477,067,537 - 77,192,702 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1477,067,503 - 77,192,702 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01477,050,030 - 77,174,290 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41477,624,411 - 77,740,695 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1471,300,173 - 71,413,222 (+)NCBICelera
Cytogenetic Map14q21NCBI
Slc2a9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555145,479,585 - 5,625,223 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555145,479,585 - 5,625,328 (-)NCBIChiLan1.0ChiLan1.0
SLC2A9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2310,023,459 - 10,270,679 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1410,232,093 - 10,479,383 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v044,232,737 - 4,442,387 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.149,606,182 - 9,771,104 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl49,553,491 - 9,746,981 (-)Ensemblpanpan1.1panPan2
SLC2A9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1369,394,304 - 69,588,462 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl369,394,152 - 69,595,802 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha371,951,679 - 72,140,512 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0370,150,039 - 70,345,339 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl370,149,887 - 70,345,335 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1369,429,052 - 69,619,481 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0369,593,868 - 69,784,921 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0369,977,002 - 70,166,047 (+)NCBIUU_Cfam_GSD_1.0
Slc2a9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528562,998,205 - 63,134,783 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647716,717,002 - 16,834,663 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647716,700,915 - 16,836,424 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC2A9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl86,210,478 - 6,367,496 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.186,211,143 - 6,367,530 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC2A9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12740,030,051 - 40,224,069 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604786,830,901 - 86,970,736 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc2a9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475521,171,274 - 21,322,543 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475521,165,374 - 21,328,843 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC2A9
373 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020041.3(SLC2A9):c.681+15836T>C single nucleotide variant Uric acid concentration, serum, quantitative trait locus 2 [RCV000004856] Chr4:9964756 [GRCh38]
Chr4:9966380 [GRCh37]
Chr4:4p16.1
association
NM_020041.3(SLC2A9):c.410+4190G>A single nucleotide variant Uric acid concentration, serum, quantitative trait locus 2 [RCV000004857] Chr4:9992591 [GRCh38]
Chr4:9992591..9992592 [GRCh38]
Chr4:9994215 [GRCh37]
Chr4:9994215..9994216 [GRCh37]
Chr4:4p16.1
association
NM_020041.3(SLC2A9):c.814+8793= single nucleotide variant Uric acid concentration, serum, quantitative trait locus 2 [RCV000004858] Chr4:9933120 [GRCh38]
Chr4:9934744 [GRCh37]
Chr4:4p16.1
association
NM_000798.5(DRD5):c.262C>T (p.Leu88Phe) single nucleotide variant DRD5-related disorder [RCV003938093]|not provided [RCV004717713]|not specified [RCV000727613] Chr4:9782291 [GRCh38]
Chr4:9783915 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) single nucleotide variant Hypouricemia, renal, 2 [RCV000004859]|not provided [RCV002512777] Chr4:9890687 [GRCh38]
Chr4:9892311 [GRCh37]
Chr4:4p16.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020041.3(SLC2A9):c.592C>T (p.Arg198Cys) single nucleotide variant Hypouricemia, renal, 2 [RCV000004860]|not provided [RCV001851656] Chr4:9980681 [GRCh38]
Chr4:9982305 [GRCh37]
Chr4:4p16.1
pathogenic|likely benign|uncertain significance
NM_020041.3(SLC2A9):c.1235C>G (p.Pro412Arg) single nucleotide variant Hypouricemia, renal, 2 [RCV000004861] Chr4:9887623 [GRCh38]
Chr4:9889247 [GRCh37]
Chr4:4p16.1
pathogenic
GRCh38/hg38 4p16.1(chr4:9381969-10163409)x3 copy number gain See cases [RCV000051567] Chr4:9381969..10163409 [GRCh38]
Chr4:9383695..10165033 [GRCh37]
Chr4:8992793..9774131 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.1(chr4:9946194-10938417)x3 copy number gain See cases [RCV000051759] Chr4:9946194..10938417 [GRCh38]
Chr4:9947818..10940041 [GRCh37]
Chr4:9556916..10549139 [NCBI36]
Chr4:4p16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 copy number loss See cases [RCV000053262] Chr4:5455628..10640216 [GRCh38]
Chr4:5457355..10641840 [GRCh37]
Chr4:5508256..10250938 [NCBI36]
Chr4:4p16.2-16.1
pathogenic
GRCh38/hg38 4p16.1(chr4:9946394-10449826)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054038]|See cases [RCV000054038] Chr4:9946394..10449826 [GRCh38]
Chr4:9948018..10451450 [GRCh37]
Chr4:9557116..10060548 [NCBI36]
Chr4:4p16.1
uncertain significance
NM_001001290.1(SLC2A9):c.972C>T (p.Ile324=) single nucleotide variant Malignant melanoma [RCV000066582] Chr4:9908289 [GRCh38]
Chr4:9909913 [GRCh37]
Chr4:9519011 [NCBI36]
Chr4:4p16.1
not provided
NM_000798.4(DRD5):c.568G>T (p.Gly190Trp) single nucleotide variant Malignant melanoma [RCV000061071] Chr4:9782597 [GRCh38]
Chr4:9784221 [GRCh37]
Chr4:9393319 [NCBI36]
Chr4:4p16.1
not provided
NM_000798.4(DRD5):c.769C>T (p.Arg257Cys) single nucleotide variant Malignant melanoma [RCV000066577] Chr4:9782798 [GRCh38]
Chr4:9784422 [GRCh37]
Chr4:9393520 [NCBI36]
Chr4:4p16.1
not provided
NM_020041.3(SLC2A9):c.1240C>T (p.Leu414=) single nucleotide variant not provided [RCV000122562] Chr4:9887618 [GRCh38]
Chr4:9889242 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.593G>A (p.Arg198His) single nucleotide variant Hypouricemia, renal, 2 [RCV001327992] Chr4:9980680 [GRCh38]
Chr4:9982304 [GRCh37]
Chr4:4p16.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.1(chr4:9813220-10817946)x3 copy number gain See cases [RCV000136068] Chr4:9813220..10817946 [GRCh38]
Chr4:9814844..10819570 [GRCh37]
Chr4:9423942..10428668 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.1(chr4:10011787-10873830)x3 copy number gain See cases [RCV000137872] Chr4:10011787..10873830 [GRCh38]
Chr4:10013411..10875454 [GRCh37]
Chr4:9622509..10484552 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3 copy number gain See cases [RCV000137908] Chr4:8414872..10011846 [GRCh38]
Chr4:8416599..10013470 [GRCh37]
Chr4:8467499..9622568 [NCBI36]
Chr4:4p16.1
likely benign
GRCh38/hg38 4p16.1(chr4:9813220-11009701)x3 copy number gain See cases [RCV000138398] Chr4:9813220..11009701 [GRCh38]
Chr4:9814844..11011325 [GRCh37]
Chr4:9423942..10620423 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.1(chr4:9813097-10873771)x3 copy number gain See cases [RCV000140423] Chr4:9813097..10873771 [GRCh38]
Chr4:9814721..10875395 [GRCh37]
Chr4:9423819..10484493 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.1(chr4:9846063-10651440)x3 copy number gain See cases [RCV000142152] Chr4:9846063..10651440 [GRCh38]
Chr4:9847687..10653064 [GRCh37]
Chr4:9456785..10262162 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.1(chr4:9369290-10250666)x3 copy number gain See cases [RCV000142611] Chr4:9369290..10250666 [GRCh38]
Chr4:9371016..10252290 [GRCh37]
Chr4:8980114..9861388 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.1(chr4:9500007-10147031)x3 copy number gain See cases [RCV000143287] Chr4:9500007..10147031 [GRCh38]
Chr4:9501651..10148655 [GRCh37]
Chr4:9110749..9757753 [NCBI36]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.1(chr4:9813097-10714839)x3 copy number gain See cases [RCV000143145] Chr4:9813097..10714839 [GRCh38]
Chr4:9814721..10716463 [GRCh37]
Chr4:9423819..10325561 [NCBI36]
Chr4:4p16.1
likely benign|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
NM_020041.3(SLC2A9):c.249+11G>T single nucleotide variant Hypouricemia, renal, 2 [RCV000262726]|not provided [RCV002057899] Chr4:10018964 [GRCh38]
Chr4:10020588 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.844G>A (p.Val282Ile) single nucleotide variant Hypouricemia, renal, 2 [RCV000262922]|not provided [RCV001517997] Chr4:9920543 [GRCh38]
Chr4:9922167 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1545C>T (p.Ser515=) single nucleotide variant Hypouricemia, renal, 2 [RCV000263929]|not provided [RCV000882276] Chr4:9826475 [GRCh38]
Chr4:9828099 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_001001290.1(SLC2A9):c.595_727del deletion Hypouricemia, renal, 2 [RCV000201279] Chr4:9941912..9942046 [GRCh38]
Chr4:9943536..9943670 [GRCh37]
Chr4:4p16.1
pathogenic|uncertain significance
NM_020041.3(SLC2A9):c.511C>T (p.Arg171Cys) single nucleotide variant Hypouricemia, renal, 2 [RCV000201281] Chr4:9985693 [GRCh38]
Chr4:9987317 [GRCh37]
Chr4:4p16.1
pathogenic|uncertain significance
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met) single nucleotide variant Hypouricemia, renal, 2 [RCV000201283] Chr4:9996817 [GRCh38]
Chr4:9998441 [GRCh37]
Chr4:4p16.1
pathogenic|likely pathogenic
NC_000004.12:g.(?_9826223)_(9908346_9920384)del deletion Hypouricemia, renal, 2 [RCV000201280] Chr4:9826223..9908346 [GRCh38]
Chr4:4p16.1
pathogenic
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg) single nucleotide variant Hypouricemia, renal, 2 [RCV000201282]|SLC2A9-related disorder [RCV003417728] Chr4:10019000 [GRCh38]
Chr4:10020624 [GRCh37]
Chr4:4p16.1
pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.1(chr4:9842917-10410994)x4 copy number gain See cases [RCV000449068] Chr4:9842917..10410994 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31
pathogenic
NM_020041.3(SLC2A9):c.1299C>T (p.Ile433=) single nucleotide variant Hypouricemia, renal, 2 [RCV000281276]|not provided [RCV001584065] Chr4:9835001 [GRCh38]
Chr4:9836625 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.883G>A (p.Val295Met) single nucleotide variant Hypouricemia, renal, 2 [RCV000268305]|not provided [RCV002520288] Chr4:9920504 [GRCh38]
Chr4:9922128 [GRCh37]
Chr4:4p16.1
benign|likely benign
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_020041.3(SLC2A9):c.504C>T (p.Ile168=) single nucleotide variant Hypouricemia, renal, 2 [RCV000269724]|not provided [RCV001509695] Chr4:9985700 [GRCh38]
Chr4:9987324 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.150+9G>A single nucleotide variant Hypouricemia, renal, 2 [RCV000275421]|not provided [RCV000963431] Chr4:10021271 [GRCh38]
Chr4:10022895 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.957C>T (p.Thr319=) single nucleotide variant Hypouricemia, renal, 2 [RCV000271783]|not provided [RCV001458508] Chr4:9920430 [GRCh38]
Chr4:9922054 [GRCh37]
Chr4:4p16.1
benign|likely benign|uncertain significance
NM_020041.3(SLC2A9):c.*110G>T single nucleotide variant Hypouricemia, renal, 2 [RCV000272330] Chr4:9826287 [GRCh38]
Chr4:9827911 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.351C>T (p.Phe117=) single nucleotide variant Hypouricemia, renal, 2 [RCV000272884]|not provided [RCV002520289] Chr4:9996840 [GRCh38]
Chr4:9998464 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.73G>A (p.Gly25Arg) single nucleotide variant Hypouricemia, renal, 2 [RCV000332816]|not provided [RCV001510423] Chr4:10021357 [GRCh38]
Chr4:10022981 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1356C>T (p.Ile452=) single nucleotide variant Hypouricemia, renal, 2 [RCV000375954] Chr4:9834944 [GRCh38]
Chr4:9836568 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1124T>C (p.Ile375Thr) single nucleotide variant Hypouricemia, renal, 2 [RCV000315426] Chr4:9890701 [GRCh38]
Chr4:9892325 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1368C>T (p.Thr456=) single nucleotide variant Hypouricemia, renal, 2 [RCV000335406] Chr4:9834932 [GRCh38]
Chr4:9836556 [GRCh37]
Chr4:4p16.1
benign|uncertain significance
NM_020041.3(SLC2A9):c.1599T>C (p.Asp533=) single nucleotide variant Hypouricemia, renal, 2 [RCV000377279]|not provided [RCV002057973] Chr4:9826421 [GRCh38]
Chr4:9828045 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.881G>A (p.Arg294His) single nucleotide variant Hypouricemia, renal, 2 [RCV000317105]|not provided [RCV001509694] Chr4:9920506 [GRCh38]
Chr4:9922130 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.250-9T>C single nucleotide variant Hypouricemia, renal, 2 [RCV000378004]|not provided [RCV001480033] Chr4:9996950 [GRCh38]
Chr4:9998574 [GRCh37]
Chr4:4p16.1
benign|likely benign|uncertain significance
NM_020041.3(SLC2A9):c.843C>T (p.Asp281=) single nucleotide variant Hypouricemia, renal, 2 [RCV000318077]|not provided [RCV005090567] Chr4:9920544 [GRCh38]
Chr4:9922168 [GRCh37]
Chr4:4p16.1
benign|likely benign|uncertain significance
NM_020041.3(SLC2A9):c.1399C>A (p.Leu467Ile) single nucleotide variant Hypouricemia, renal, 2 [RCV000379460] Chr4:9834901 [GRCh38]
Chr4:9836525 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1085G>A (p.Gly362Asp) single nucleotide variant Hypouricemia, renal, 2 [RCV000403016] Chr4:9908263 [GRCh38]
Chr4:9909887 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.899G>A (p.Arg300His) single nucleotide variant Hypouricemia, renal, 2 [RCV000303472]|SLC2A9-related disorder [RCV003902357]|not provided [RCV000957839] Chr4:9920488 [GRCh38]
Chr4:9920488..9920489 [GRCh38]
Chr4:9922112 [GRCh37]
Chr4:9922112..9922113 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.247C>A (p.Pro83Thr) single nucleotide variant Dalmatian hypouricemia [RCV000320054] Chr4:10018977 [GRCh38]
Chr4:10020601 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.322T>C (p.Leu108=) single nucleotide variant Hypouricemia, renal, 2 [RCV000320934]|not provided [RCV001518000] Chr4:9996869 [GRCh38]
Chr4:9998493 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.666C>T (p.Pro222=) single nucleotide variant Hypouricemia, renal, 2 [RCV000405411]|not provided [RCV002523495] Chr4:9980607 [GRCh38]
Chr4:9982231 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.1203G>A (p.Thr401=) single nucleotide variant Hypouricemia, renal, 2 [RCV000407190]|not provided [RCV002523492] Chr4:9890622 [GRCh38]
Chr4:9892246 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.1049C>T (p.Pro350Leu) single nucleotide variant Hypouricemia, renal, 2 [RCV000306821]|not provided [RCV001509693] Chr4:9908299 [GRCh38]
Chr4:9909923 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.*129C>A single nucleotide variant Hypouricemia, renal, 2 [RCV000363064] Chr4:9826268 [GRCh38]
Chr4:9827892 [GRCh37]
Chr4:4p16.1
likely benign|uncertain significance
NM_020041.3(SLC2A9):c.841G>C (p.Asp281His) single nucleotide variant Hypouricemia, renal, 2 [RCV000386577]|not provided [RCV001521714] Chr4:9920546 [GRCh38]
Chr4:9920546..9920547 [GRCh38]
Chr4:9922170 [GRCh37]
Chr4:9922170..9922171 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.198C>G (p.Gly66=) single nucleotide variant Hypouricemia, renal, 2 [RCV000386346]|not provided [RCV002523459] Chr4:10019026 [GRCh38]
Chr4:10020650 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.824C>T (p.Thr275Met) single nucleotide variant Hypouricemia, renal, 2 [RCV000292249]|SLC2A9-related disorder [RCV003922539]|not provided [RCV001513180] Chr4:9920563 [GRCh38]
Chr4:9922187 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.1413C>A (p.Phe471Leu) single nucleotide variant Hypouricemia, renal, 2 [RCV000323781] Chr4:9834887 [GRCh38]
Chr4:9836511 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.798G>A (p.Glu266=) single nucleotide variant Hypouricemia, renal, 2 [RCV000387662] Chr4:9941929 [GRCh38]
Chr4:9943553 [GRCh37]
Chr4:4p16.1
likely benign|uncertain significance
NM_020041.3(SLC2A9):c.1046C>T (p.Pro349Leu) single nucleotide variant Hypouricemia, renal, 2 [RCV000366200]|SLC2A9-related disorder [RCV003912488]|not provided [RCV002058502] Chr4:9908302 [GRCh38]
Chr4:9909926 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.375G>A (p.Thr125=) single nucleotide variant Hypouricemia, renal, 2 [RCV000326734]|not provided [RCV001517999] Chr4:9996816 [GRCh38]
Chr4:9998440 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.72C>T (p.Ala24=) single nucleotide variant Hypouricemia, renal, 2 [RCV000389783]|not provided [RCV000926073] Chr4:10021358 [GRCh38]
Chr4:10022982 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.681+13C>T single nucleotide variant Hypouricemia, renal, 2 [RCV000367886]|not provided [RCV002058503] Chr4:9980579 [GRCh38]
Chr4:9982203 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.567T>C (p.Leu189=) single nucleotide variant Hypouricemia, renal, 2 [RCV000371270]|not provided [RCV001517998] Chr4:9980706 [GRCh38]
Chr4:9982330 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1221C>T (p.His407=) single nucleotide variant Hypouricemia, renal, 2 [RCV000350347]|not provided [RCV003546545] Chr4:9887637 [GRCh38]
Chr4:9889261 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.1113+9A>C single nucleotide variant Hypouricemia, renal, 2 [RCV000351246]|not provided [RCV001509692] Chr4:9908226 [GRCh38]
Chr4:9909850 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.809T>C (p.Val270Ala) single nucleotide variant Hypouricemia, renal, 2 [RCV000351740]|SLC2A9-related disorder [RCV003922540]|not provided [RCV000903410] Chr4:9941918 [GRCh38]
Chr4:9943542 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.1392T>C (p.Ala464=) single nucleotide variant Hypouricemia, renal, 2 [RCV000280256] Chr4:9834908 [GRCh38]
Chr4:9836532 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs) duplication Hypouricemia, renal, 2 [RCV000365096]|not provided [RCV001861247] Chr4:9996836..9996837 [GRCh38]
Chr4:9998460..9998461 [GRCh37]
Chr4:4p16.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000798.5(DRD5):c.1184C>T (p.Ser395Phe) single nucleotide variant not provided [RCV000267383] Chr4:9783213 [GRCh38]
Chr4:9784837 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.978C>T (p.Pro326=) single nucleotide variant Schizophrenia [RCV003239305] Chr4:9783007 [GRCh38]
Chr4:9784631 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.879C>G (p.Ser293Arg) single nucleotide variant Hypouricemia, renal, 2 [RCV000371768] Chr4:9920508 [GRCh38]
Chr4:9922132 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.*48C>G single nucleotide variant Hypouricemia, renal, 2 [RCV000327391] Chr4:9826349 [GRCh38]
Chr4:9827973 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1581C>T (p.Ile527=) single nucleotide variant Hypouricemia, renal, 2 [RCV001152510] Chr4:9826439 [GRCh38]
Chr4:9828063 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1466T>C (p.Ile489Thr) single nucleotide variant Hypouricemia, renal, 2 [RCV001152511] Chr4:9826554 [GRCh38]
Chr4:9828178 [GRCh37]
Chr4:4p16.1
benign
NC_000004.12:g.8398067_17505522inv inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.1(chr4:9783445-10679534)x3 copy number gain See cases [RCV000449135] Chr4:9783445..10679534 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.1(chr4:8683743-10358964)x3 copy number gain See cases [RCV000447041] Chr4:8683743..10358964 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.1(chr4:9688013-10869048)x3 copy number gain See cases [RCV000448440] Chr4:9688013..10869048 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.1(chr4:10032249-10885795)x3 copy number gain See cases [RCV000511401] Chr4:10032249..10885795 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
NM_000798.5(DRD5):c.905T>C (p.Met302Thr) single nucleotide variant not specified [RCV004302190] Chr4:9782934 [GRCh38]
Chr4:9784558 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1086C>G (p.Asn362Lys) single nucleotide variant not provided [RCV000594513] Chr4:9783115 [GRCh38]
Chr4:9784739 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1243C>T (p.Pro415Ser) single nucleotide variant not specified [RCV004316559] Chr4:9783272 [GRCh38]
Chr4:9784896 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9501650-10040569)x3 copy number gain See cases [RCV000512407] Chr4:9501650..10040569 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1(chr4:9663395-10653064)x3 copy number gain not provided [RCV000682384] Chr4:9663395..10653064 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9748015-10077638)x3 copy number gain not provided [RCV000682385] Chr4:9748015..10077638 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9501650-9953761)x3 copy number gain not provided [RCV000682383] Chr4:9501650..9953761 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1114-1G>C single nucleotide variant not provided [RCV000722502] Chr4:9890712 [GRCh38]
Chr4:9892336 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9485300-10272429)x0 copy number loss not provided [RCV000743358] Chr4:9485300..10272429 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9485300-10274330)x0 copy number loss not provided [RCV000743359] Chr4:9485300..10274330 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9485300-10292034)x0 copy number loss not provided [RCV000743360] Chr4:9485300..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10273431)x0 copy number loss not provided [RCV000743361] Chr4:9486060..10273431 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10274994)x0 copy number loss not provided [RCV000743362] Chr4:9486060..10274994 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10276250)x0 copy number loss not provided [RCV000743363] Chr4:9486060..10276250 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10400156)x0 copy number loss not provided [RCV000743364] Chr4:9486060..10400156 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10409841)x0 copy number loss not provided [RCV000743365] Chr4:9486060..10409841 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10726103)x0 copy number loss not provided [RCV000743366] Chr4:9486060..10726103 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9486060-10727697)x0 copy number loss not provided [RCV000743367] Chr4:9486060..10727697 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9492403-10310495)x0 copy number loss not provided [RCV000743368] Chr4:9492403..10310495 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9492403-10342028)x0 copy number loss not provided [RCV000743369] Chr4:9492403..10342028 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9492403-10383005)x0 copy number loss not provided [RCV000743370] Chr4:9492403..10383005 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9626304-10274383)x0 copy number loss not provided [RCV000743371] Chr4:9626304..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9626897-11038982)x0 copy number loss not provided [RCV000743372] Chr4:9626897..11038982 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9832512-10400156)x0 copy number loss not provided [RCV000743373] Chr4:9832512..10400156 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9872364-10136753)x0 copy number loss not provided [RCV000743374] Chr4:9872364..10136753 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9872364-10396125)x0 copy number loss not provided [RCV000743375] Chr4:9872364..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9951221-9956228)x1 copy number loss not provided [RCV000743376] Chr4:9951221..9956228 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9953086-9953586)x1 copy number loss not provided [RCV000743377] Chr4:9953086..9953586 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9966772-9973243)x1 copy number loss not provided [RCV000743378] Chr4:9966772..9973243 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9967053-9971517)x3 copy number gain not provided [RCV000743379] Chr4:9967053..9971517 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9968684-9971903)x3 copy number gain not provided [RCV000743380] Chr4:9968684..9971903 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9970570-9970962)x0 copy number loss not provided [RCV000743381] Chr4:9970570..9970962 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.1(chr4:9474235-10271645)x0 copy number loss not provided [RCV000743302] Chr4:9474235..10271645 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272429)x0 copy number loss not provided [RCV000743303] Chr4:9474235..10272429 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272591)x0 copy number loss not provided [RCV000743304] Chr4:9474235..10272591 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272605)x0 copy number loss not provided [RCV000743305] Chr4:9474235..10272605 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10272953)x0 copy number loss not provided [RCV000743306] Chr4:9474235..10272953 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10273244)x0 copy number loss not provided [RCV000743307] Chr4:9474235..10273244 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10273836)x0 copy number loss not provided [RCV000743308] Chr4:9474235..10273836 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10274383)x0 copy number loss not provided [RCV000743309] Chr4:9474235..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10274626)x0 copy number loss not provided [RCV000743310] Chr4:9474235..10274626 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10274994)x0 copy number loss not provided [RCV000743311] Chr4:9474235..10274994 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10275470)x0 copy number loss not provided [RCV000743312] Chr4:9474235..10275470 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10283627)x0 copy number loss not provided [RCV000743313] Chr4:9474235..10283627 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10284993)x0 copy number loss not provided [RCV000743314] Chr4:9474235..10284993 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10292034)x0 copy number loss not provided [RCV000743315] Chr4:9474235..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10310495)x0 copy number loss not provided [RCV000743316] Chr4:9474235..10310495 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10311074)x0 copy number loss not provided [RCV000743317] Chr4:9474235..10311074 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10335052)x0 copy number loss not provided [RCV000743318] Chr4:9474235..10335052 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10342028)x0 copy number loss not provided [RCV000743319] Chr4:9474235..10342028 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10342723)x0 copy number loss not provided [RCV000743320] Chr4:9474235..10342723 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10394063)x0 copy number loss not provided [RCV000743321] Chr4:9474235..10394063 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10396125)x0 copy number loss not provided [RCV000743322] Chr4:9474235..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10402173)x0 copy number loss not provided [RCV000743327] Chr4:9474235..10402173 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.898C>T (p.Arg300Cys) single nucleotide variant Hypouricemia, renal, 2 [RCV000358366]|Inborn genetic diseases [RCV002523494]|not provided [RCV002523493] Chr4:9920489 [GRCh38]
Chr4:9922113 [GRCh37]
Chr4:4p16.1
likely benign|uncertain significance
GRCh37/hg19 4p16.1(chr4:9474235-10396709)x0 copy number loss not provided [RCV000743323] Chr4:9474235..10396709 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10398081)x0 copy number loss not provided [RCV000743324] Chr4:9474235..10398081 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10399316)x0 copy number loss not provided [RCV000743325] Chr4:9474235..10399316 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10400156)x0 copy number loss not provided [RCV000743326] Chr4:9474235..10400156 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10402457)x0 copy number loss not provided [RCV000743328] Chr4:9474235..10402457 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10419465)x0 copy number loss not provided [RCV000743329] Chr4:9474235..10419465 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10538501)x0 copy number loss not provided [RCV000743330] Chr4:9474235..10538501 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10704867)x0 copy number loss not provided [RCV000743331] Chr4:9474235..10704867 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10706422)x0 copy number loss not provided [RCV000743332] Chr4:9474235..10706422 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10730199)x0 copy number loss not provided [RCV000743333] Chr4:9474235..10730199 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10735895)x0 copy number loss not provided [RCV000743334] Chr4:9474235..10735895 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-10739561)x0 copy number loss not provided [RCV000743335] Chr4:9474235..10739561 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-11016253)x0 copy number loss not provided [RCV000743336] Chr4:9474235..11016253 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9474235-11040290)x0 copy number loss not provided [RCV000743337] Chr4:9474235..11040290 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10274383)x0 copy number loss not provided [RCV000743341] Chr4:9476926..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476332-10324160)x0 copy number loss not provided [RCV000743338] Chr4:9476332..10324160 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476603-10274383)x0 copy number loss not provided [RCV000743339] Chr4:9476603..10274383 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10272429)x0 copy number loss not provided [RCV000743340] Chr4:9476926..10272429 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10275470)x0 copy number loss not provided [RCV000743342] Chr4:9476926..10275470 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10292034)x0 copy number loss not provided [RCV000743343] Chr4:9476926..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10378602)x0 copy number loss not provided [RCV000743344] Chr4:9476926..10378602 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10396125)x0 copy number loss not provided [RCV000743345] Chr4:9476926..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10402457)x0 copy number loss not provided [RCV000743346] Chr4:9476926..10402457 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10649456)x0 copy number loss not provided [RCV000743347] Chr4:9476926..10649456 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9476926-10739561)x0 copy number loss not provided [RCV000743348] Chr4:9476926..10739561 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477103-10396125)x0 copy number loss not provided [RCV000743349] Chr4:9477103..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477442-10424323)x0 copy number loss not provided [RCV000743350] Chr4:9477442..10424323 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10274279)x0 copy number loss not provided [RCV000743351] Chr4:9477503..10274279 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10274626)x0 copy number loss not provided [RCV000743352] Chr4:9477503..10274626 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10292034)x0 copy number loss not provided [RCV000743353] Chr4:9477503..10292034 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10396125)x0 copy number loss not provided [RCV000743354] Chr4:9477503..10396125 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10699551)x0 copy number loss not provided [RCV000743355] Chr4:9477503..10699551 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9477503-10739561)x0 copy number loss not provided [RCV000743356] Chr4:9477503..10739561 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9480235-10335052)x0 copy number loss not provided [RCV000743357] Chr4:9480235..10335052 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_020041.3(SLC2A9):c.249+119G>A single nucleotide variant not provided [RCV001608732] Chr4:10018856 [GRCh38]
Chr4:10020480 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.250-40A>G single nucleotide variant Hypouricemia, renal, 2 [RCV001810192]|not provided [RCV001644451] Chr4:9996981 [GRCh38]
Chr4:9998605 [GRCh37]
Chr4:4p16.1
benign
NM_000798.5(DRD5):c.-226G>C single nucleotide variant not provided [RCV001644104] Chr4:9781804 [GRCh38]
Chr4:9783428 [GRCh37]
Chr4:4p16.1
benign
NM_000798.5(DRD5):c.*47T>C single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239295]|not provided [RCV001708682] Chr4:9783510 [GRCh38]
Chr4:9785134 [GRCh37]
Chr4:4p16.1
benign|uncertain significance
NM_001001290.2(SLC2A9):c.64-2751G>A single nucleotide variant not provided [RCV001681225] Chr4:10021824 [GRCh38]
Chr4:10023448 [GRCh37]
Chr4:4p16.1
benign
NM_000798.5(DRD5):c.*178G>T single nucleotide variant not provided [RCV001680485] Chr4:9783641 [GRCh38]
Chr4:9785265 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1291+197G>A single nucleotide variant not provided [RCV001690483] Chr4:9887370 [GRCh38]
Chr4:9888994 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1575G>C (p.Glu525Asp) single nucleotide variant Inborn genetic diseases [RCV003245996] Chr4:9826445 [GRCh38]
Chr4:9828069 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.123T>C (p.Ser41=) single nucleotide variant Hypouricemia, renal, 2 [RCV001150995]|SLC2A9-related disorder [RCV003958112]|not provided [RCV000899307] Chr4:10021307 [GRCh38]
Chr4:10022931 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.168C>G (p.Leu56=) single nucleotide variant not provided [RCV000928983] Chr4:10019056 [GRCh38]
Chr4:10020680 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.1(chr4:9827438-10939900) copy number gain not provided [RCV000767791] Chr4:9827438..10939900 [GRCh37]
Chr4:4p16.1
pathogenic
NM_020041.3(SLC2A9):c.512G>A (p.Arg171His) single nucleotide variant Hypouricemia, renal, 2 [RCV000779454] Chr4:9985692 [GRCh38]
Chr4:9987316 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.759G>A (p.Pro253=) single nucleotide variant Hypouricemia, renal, 2 [RCV001029920] Chr4:9941968 [GRCh38]
Chr4:9943592 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1343C>T (p.Pro448Leu) single nucleotide variant Hypouricemia, renal, 2 [RCV001030002] Chr4:9834957 [GRCh38]
Chr4:9836581 [GRCh37]
Chr4:4p16.1
likely pathogenic
GRCh37/hg19 4p16.1(chr4:9580088-9972542)x3 copy number gain not provided [RCV000849261] Chr4:9580088..9972542 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.227C>T (p.Ser76Leu) single nucleotide variant Hypouricemia, renal, 2 [RCV001150994] Chr4:10018997 [GRCh38]
Chr4:10020621 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.1(chr4:9663649-10767260)x3 copy number gain not provided [RCV000848809] Chr4:9663649..10767260 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.1(chr4:9794001-9833187)x1 copy number loss not provided [RCV000848031] Chr4:9794001..9833187 [GRCh37]
Chr4:4p16.1
pathogenic
GRCh37/hg19 4p16.1(chr4:9540691-10209966)x3 copy number gain not provided [RCV000848955] Chr4:9540691..10209966 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32
likely pathogenic
GRCh37/hg19 4p16.1(chr4:9843086-10946046)x3 copy number gain not provided [RCV000846503] Chr4:9843086..10946046 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.50T>G (p.Leu17Arg) single nucleotide variant Hypouricemia, renal, 2 [RCV001144892] Chr4:10021380 [GRCh38]
Chr4:10023004 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9927512-9954773)x1 copy number loss not provided [RCV000845963] Chr4:9927512..9954773 [GRCh37]
Chr4:4p16.1
pathogenic
NM_000798.5(DRD5):c.1060C>G (p.Leu354Val) single nucleotide variant not specified [RCV004289001] Chr4:9783089 [GRCh38]
Chr4:9784713 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.575T>C (p.Ile192Thr) single nucleotide variant Hypouricemia, renal, 2 [RCV001156512] Chr4:9980698 [GRCh38]
Chr4:9982322 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.547A>G (p.Ser183Gly) single nucleotide variant Hypouricemia, renal, 2 [RCV001156513] Chr4:9980726 [GRCh38]
Chr4:9982350 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_001001290.2(SLC2A9):c.-40-13T>C single nucleotide variant not provided [RCV001662973] Chr4:10026019 [GRCh38]
Chr4:10027643 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.684G>A (p.Glu228=) single nucleotide variant Hypouricemia, renal, 2 [RCV003237316] Chr4:9942043 [GRCh38]
Chr4:9943667 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1215+173G>T single nucleotide variant not provided [RCV001671209] Chr4:9890437 [GRCh38]
Chr4:9892061 [GRCh37]
Chr4:4p16.1
benign
NM_001001290.2(SLC2A9):c.63+174G>C single nucleotide variant not provided [RCV001696028] Chr4:10025730 [GRCh38]
Chr4:10027354 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.681+187T>C single nucleotide variant not provided [RCV001639713] Chr4:9980405 [GRCh38]
Chr4:9982029 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.411-250A>C single nucleotide variant not provided [RCV001710077] Chr4:9986043 [GRCh38]
Chr4:9987667 [GRCh37]
Chr4:4p16.1
benign
NM_001001290.2(SLC2A9):c.-40-339A>T single nucleotide variant not provided [RCV001620577] Chr4:10026345 [GRCh38]
Chr4:10027969 [GRCh37]
Chr4:4p16.1
benign
NM_001001290.2(SLC2A9):c.49G>A (p.Ala17Thr) single nucleotide variant not provided [RCV001670514] Chr4:10025918 [GRCh38]
Chr4:10027542 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1216-221C>T single nucleotide variant not provided [RCV001711017] Chr4:9887863 [GRCh38]
Chr4:9889487 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1291+122G>A single nucleotide variant not provided [RCV001657000] Chr4:9887445 [GRCh38]
Chr4:9889069 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1114-89G>C single nucleotide variant not provided [RCV001574697] Chr4:9890800 [GRCh38]
Chr4:9892424 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.937G>A (p.Val313Ile) single nucleotide variant Hypouricemia, renal, 2 [RCV001156411]|not provided [RCV001210271] Chr4:9920450 [GRCh38]
Chr4:9922074 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.909C>T (p.Ser303=) single nucleotide variant Hypouricemia, renal, 2 [RCV001156412]|not provided [RCV002558362] Chr4:9920478 [GRCh38]
Chr4:9922102 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.1292-6C>T single nucleotide variant not provided [RCV000912547] Chr4:9835014 [GRCh38]
Chr4:9836638 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.682-31C>T single nucleotide variant not provided [RCV001717909] Chr4:9942076 [GRCh38]
Chr4:9943700 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1292-229A>T single nucleotide variant not provided [RCV001689339] Chr4:9835237 [GRCh38]
Chr4:9836861 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9577433-10148655)x3 copy number gain not provided [RCV002473818] Chr4:9577433..10148655 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:8724579-9953187)x3 copy number gain not provided [RCV001005522] Chr4:8724579..9953187 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1215+132A>G single nucleotide variant not provided [RCV001655116] Chr4:9890478 [GRCh38]
Chr4:9892102 [GRCh37]
Chr4:4p16.1
benign
NM_001001290.2(SLC2A9):c.64-2604del deletion not provided [RCV001687532] Chr4:10021677 [GRCh38]
Chr4:10023301 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.150+24A>G single nucleotide variant not provided [RCV001643594] Chr4:10021256 [GRCh38]
Chr4:10022880 [GRCh37]
Chr4:4p16.1
benign
NM_001001290.2(SLC2A9):c.63+18del deletion not provided [RCV001655165] Chr4:10025886 [GRCh38]
Chr4:10027510 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.411-305C>T single nucleotide variant not provided [RCV001715101] Chr4:9986098 [GRCh38]
Chr4:9987722 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.410+29G>T single nucleotide variant not provided [RCV001616716] Chr4:9996752 [GRCh38]
Chr4:9998376 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.1(chr4:9544188-10738030)x3 copy number gain not provided [RCV001005524] Chr4:9544188..10738030 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.249+35C>T single nucleotide variant Hypouricemia, renal, 2 [RCV001810147]|not provided [RCV001620548] Chr4:10018940 [GRCh38]
Chr4:10020564 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1420-278G>A single nucleotide variant not provided [RCV001710755] Chr4:9826878 [GRCh38]
Chr4:9828502 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.681+172T>G single nucleotide variant not provided [RCV001721797] Chr4:9980420 [GRCh38]
Chr4:9982044 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1419+139A>G single nucleotide variant not provided [RCV001594799] Chr4:9834742 [GRCh38]
Chr4:9836366 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.*4G>A single nucleotide variant Hypouricemia, renal, 2 [RCV001157970] Chr4:9826393 [GRCh38]
Chr4:9828017 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.*136A>G single nucleotide variant Hypouricemia, renal, 2 [RCV001157969] Chr4:9826261 [GRCh38]
Chr4:9827885 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1113+300A>C single nucleotide variant not provided [RCV001693125] Chr4:9907935 [GRCh38]
Chr4:9909559 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.535+67A>G single nucleotide variant not provided [RCV001694257] Chr4:9985602 [GRCh38]
Chr4:9987226 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1216-182C>T single nucleotide variant not provided [RCV001684948] Chr4:9887824 [GRCh38]
Chr4:9889448 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.727G>A (p.Val243Ile) single nucleotide variant Hypouricemia, renal, 2 [RCV001152613]|not provided [RCV001349500] Chr4:9942000 [GRCh38]
Chr4:9943624 [GRCh37]
Chr4:4p16.1
benign|uncertain significance
NM_020041.3(SLC2A9):c.1420-260A>G single nucleotide variant not provided [RCV001678841] Chr4:9826860 [GRCh38]
Chr4:9828484 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1003-216TA[4] microsatellite not provided [RCV001710732] Chr4:9908552..9908553 [GRCh38]
Chr4:9910176..9910177 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
NM_020041.3(SLC2A9):c.410+187_410+191dup duplication not provided [RCV001667894] Chr4:9996589..9996590 [GRCh38]
Chr4:9998213..9998214 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1002+78A>G single nucleotide variant not provided [RCV001680201] Chr4:9920307 [GRCh38]
Chr4:9921931 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1419+315C>T single nucleotide variant not provided [RCV001671689] Chr4:9834566 [GRCh38]
Chr4:9836190 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.45_50dup (p.Pro16_Leu17dup) duplication Hypouricemia, renal, 2 [RCV002489697]|not provided [RCV001066238] Chr4:10021379..10021380 [GRCh38]
Chr4:10023003..10023004 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.-8T>G single nucleotide variant Hypouricemia, renal, 2 [RCV001144893]|SLC2A9-related disorder [RCV003953525]|not provided [RCV004716671] Chr4:10021437 [GRCh38]
Chr4:10023061 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.150+65C>T single nucleotide variant not provided [RCV001539983] Chr4:10021215 [GRCh38]
Chr4:10022839 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1003-166_1003-159del deletion not provided [RCV001710367] Chr4:9908504..9908511 [GRCh38]
Chr4:9910128..9910135 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1215+4A>G single nucleotide variant not provided [RCV001230450] Chr4:9890606 [GRCh38]
Chr4:9892230 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_020041.3(SLC2A9):c.1004T>C (p.Ile335Thr) single nucleotide variant Hypouricemia, renal, 2 [RCV001156410]|Inborn genetic diseases [RCV004678970] Chr4:9908344 [GRCh38]
Chr4:9909968 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1622A>G (p.Ter541=) single nucleotide variant Hypouricemia, renal, 2 [RCV001157971] Chr4:9826398 [GRCh38]
Chr4:9828022 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1-15.33(chr4:9896293-13242797)x3 copy number gain See cases [RCV001195074] Chr4:9896293..13242797 [GRCh37]
Chr4:4p16.1-15.33
uncertain significance
NM_020041.3(SLC2A9):c.1302G>A (p.Pro434=) single nucleotide variant Hypouricemia, renal, 2 [RCV001153783]|not provided [RCV001433869] Chr4:9834998 [GRCh38]
Chr4:9836622 [GRCh37]
Chr4:4p16.1
benign|likely benign
GRCh37/hg19 4p16.1(chr4:9501650-10794722)x3 copy number gain not provided [RCV001005523] Chr4:9501650..10794722 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.619A>G (p.Ile207Val) single nucleotide variant Hypouricemia, renal, 2 [RCV001156511]|not provided [RCV004694994] Chr4:9980654 [GRCh38]
Chr4:9982278 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9544188-9969907)x3 copy number gain not provided [RCV001258626] Chr4:9544188..9969907 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.610G>A (p.Val204Met) single nucleotide variant Inborn genetic diseases [RCV004683674] Chr4:9980663 [GRCh38]
Chr4:9982287 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9748015-10942200)x3 copy number gain not provided [RCV001259847] Chr4:9748015..10942200 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1511A>T (p.Asn504Ile) single nucleotide variant not provided [RCV001298188] Chr4:9826509 [GRCh38]
Chr4:9828133 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg) single nucleotide variant Hypouricemia, renal, 2 [RCV003325566]|SLC2A9-related disorder [RCV003973215]|not provided [RCV001355676]|not specified [RCV002246334] Chr4:9980627 [GRCh38]
Chr4:9982251 [GRCh37]
Chr4:4p16.1
pathogenic|uncertain significance
NM_020041.3(SLC2A9):c.1386C>G (p.Asn462Lys) single nucleotide variant not provided [RCV001315693] Chr4:9834914 [GRCh38]
Chr4:9836538 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.156G>A (p.Trp52Ter) single nucleotide variant Renal hypouricemia 2 [RCV001329726] Chr4:10019068 [GRCh38]
Chr4:10020692 [GRCh37]
Chr4:4p16.1
pathogenic
NM_020041.3(SLC2A9):c.1344G>A (p.Pro448=) single nucleotide variant not provided [RCV001395524] Chr4:9834956 [GRCh38]
Chr4:9836580 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.713T>C (p.Ile238Thr) single nucleotide variant not provided [RCV001351388] Chr4:9942014 [GRCh38]
Chr4:9943638 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.538G>A (p.Val180Ile) single nucleotide variant Hypouricemia, renal, 2 [RCV002486244]|not provided [RCV001316751] Chr4:9980735 [GRCh38]
Chr4:9982359 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1114-29CT[8] microsatellite Hypouricemia, renal, 2 [RCV002495743]|not provided [RCV001492173] Chr4:9890726..9890727 [GRCh38]
Chr4:9892350..9892351 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_020041.3(SLC2A9):c.30G>A (p.Lys10=) single nucleotide variant Hypouricemia, renal, 2 [RCV002501536]|not provided [RCV001435178] Chr4:10021400 [GRCh38]
Chr4:10023024 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.726C>T (p.Ala242=) single nucleotide variant Hypouricemia, renal, 2 [RCV002499894]|not provided [RCV001417301] Chr4:9942001 [GRCh38]
Chr4:9943625 [GRCh37]
Chr4:4p16.1
likely benign
NM_001001290.2(SLC2A9):c.64-2531T>C single nucleotide variant not provided [RCV001541818] Chr4:10021604 [GRCh38]
Chr4:10023228 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.410+261G>A single nucleotide variant not provided [RCV001535205] Chr4:9996520 [GRCh38]
Chr4:9998144 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
NM_001001290.2(SLC2A9):c.-40-114C>T single nucleotide variant not provided [RCV001681536] Chr4:10026120 [GRCh38]
Chr4:10027744 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1292-292_1292-291del deletion not provided [RCV001619409] Chr4:9835299..9835300 [GRCh38]
Chr4:9836923..9836924 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.681+266G>A single nucleotide variant not provided [RCV001694042] Chr4:9980326 [GRCh38]
Chr4:9981950 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.107G>A (p.Cys36Tyr) single nucleotide variant not provided [RCV001452881] Chr4:10021323 [GRCh38]
Chr4:10022947 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1420-167C>T single nucleotide variant not provided [RCV001581990] Chr4:9826767 [GRCh38]
Chr4:9828391 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1420-19del deletion Hypouricemia, renal, 2 [RCV002501770]|not provided [RCV001512722] Chr4:9826619 [GRCh38]
Chr4:9828243 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.681+219C>T single nucleotide variant not provided [RCV001674223] Chr4:9980373 [GRCh38]
Chr4:9981997 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.151-60T>C single nucleotide variant not provided [RCV001708561] Chr4:10019133 [GRCh38]
Chr4:10020757 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.681+25G>A single nucleotide variant Hypouricemia, renal, 2 [RCV001810281]|not provided [RCV001708798] Chr4:9980567 [GRCh38]
Chr4:9982191 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.795C>T (p.Asn265=) single nucleotide variant Hypouricemia, renal, 2 [RCV002495594]|not provided [RCV001431398] Chr4:9941932 [GRCh38]
Chr4:9943556 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1215+95T>C single nucleotide variant not provided [RCV001799868] Chr4:9890515 [GRCh38]
Chr4:9892139 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.1(chr4:10017334-10723874)x3 copy number gain not provided [RCV001827734] Chr4:10017334..10723874 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
NM_020041.3(SLC2A9):c.599C>T (p.Ser200Phe) single nucleotide variant not provided [RCV001926298] Chr4:9980674 [GRCh38]
Chr4:9982298 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:9865042-10320833) copy number gain not specified [RCV002053407] Chr4:9865042..10320833 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1(chr4:8683743-10358964) copy number gain not specified [RCV002053406] Chr4:8683743..10358964 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1459A>G (p.Ile487Val) single nucleotide variant not provided [RCV002039470] Chr4:9826561 [GRCh38]
Chr4:9828185 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3 copy number gain not provided [RCV001834299] Chr4:9577432..16223471 [GRCh37]
Chr4:4p16.1-15.32
likely pathogenic
NM_020041.3(SLC2A9):c.154T>A (p.Trp52Arg) single nucleotide variant not provided [RCV002004334] Chr4:10019070 [GRCh38]
Chr4:10020694 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.770G>T (p.Arg257Leu) single nucleotide variant not provided [RCV001904606] Chr4:9941957 [GRCh38]
Chr4:9943581 [GRCh37]
Chr4:4p16.1
uncertain significance
NC_000004.11:g.(?_9828021)_(9828244_?)dup duplication not provided [RCV002012338] Chr4:9828021..9828244 [GRCh37]
Chr4:4p16.1
uncertain significance
NC_000004.11:g.(?_9828021)_(10090385_?)dup duplication not provided [RCV002014743] Chr4:9828021..10090385 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.769C>T (p.Arg257Cys) single nucleotide variant not provided [RCV001921968] Chr4:9941958 [GRCh38]
Chr4:9943582 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1518C>G (p.Thr506=) single nucleotide variant Hypouricemia, renal, 2 [RCV002479748]|not provided [RCV002029041] Chr4:9826502 [GRCh38]
Chr4:9828126 [GRCh37]
Chr4:4p16.1
likely benign|uncertain significance
NM_020041.3(SLC2A9):c.1184T>C (p.Phe395Ser) single nucleotide variant not provided [RCV001877941] Chr4:9890641 [GRCh38]
Chr4:9892265 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1139G>A (p.Arg380Gln) single nucleotide variant not provided [RCV002036453] Chr4:9890686 [GRCh38]
Chr4:9892310 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.864G>A (p.Glu288=) single nucleotide variant not provided [RCV002195199] Chr4:9920523 [GRCh38]
Chr4:9922147 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.536-18T>A single nucleotide variant not provided [RCV002080287] Chr4:9980755 [GRCh38]
Chr4:9982379 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1050G>A (p.Pro350=) single nucleotide variant not provided [RCV002115824] Chr4:9908298 [GRCh38]
Chr4:9909922 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.825G>A (p.Thr275=) single nucleotide variant not provided [RCV002138612] Chr4:9920562 [GRCh38]
Chr4:9922186 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1215+7C>T single nucleotide variant not provided [RCV002203101] Chr4:9890603 [GRCh38]
Chr4:9892227 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1002+16C>T single nucleotide variant not provided [RCV002176563] Chr4:9920369 [GRCh38]
Chr4:9921993 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1002+11G>A single nucleotide variant not provided [RCV002161348] Chr4:9920374 [GRCh38]
Chr4:9921998 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1419+16del deletion not provided [RCV002155771] Chr4:9834865 [GRCh38]
Chr4:9836489 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.756C>T (p.Leu252=) single nucleotide variant not provided [RCV003112551] Chr4:9941971 [GRCh38]
Chr4:9943595 [GRCh37]
Chr4:4p16.1
likely benign
NC_000004.11:g.(?_8869419)_(10118290_?)del deletion not provided [RCV003119759] Chr4:8869419..10118290 [GRCh37]
Chr4:4p16.1
uncertain significance
NC_000004.11:g.(?_9828021)_(9892355_?)del deletion not provided [RCV003119959] Chr4:9828021..9892355 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.929C>A (p.Ala310Asp) single nucleotide variant Hypouricemia, renal, 2 [RCV003156158] Chr4:9920458 [GRCh38]
Chr4:9922082 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.410+211C>T single nucleotide variant not provided [RCV002267454] Chr4:9996570 [GRCh38]
Chr4:9998194 [GRCh37]
Chr4:4p16.1
likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_000798.5(DRD5):c.968G>T (p.Ser323Ile) single nucleotide variant not specified [RCV004303287] Chr4:9782997 [GRCh38]
Chr4:9784621 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
NM_000798.5(DRD5):c.866A>G (p.Lys289Arg) single nucleotide variant not specified [RCV004113577] Chr4:9782895 [GRCh38]
Chr4:9784519 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.682-8847_682-8846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion Schizophrenia [RCV002463538] Chr4:9950891..9950892 [GRCh38]
Chr4:9952515..9952516 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
NM_020041.3(SLC2A9):c.731T>A (p.Val244Asp) single nucleotide variant Hypouricemia, renal, 2 [RCV003237317] Chr4:9941996 [GRCh38]
Chr4:9943620 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1385A>G (p.Asn462Ser) single nucleotide variant not provided [RCV002617147] Chr4:9834915 [GRCh38]
Chr4:9836539 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.162C>T (p.Cys54=) single nucleotide variant not provided [RCV002615006] Chr4:10019062 [GRCh38]
Chr4:10020686 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1035del (p.Ala346fs) deletion not provided [RCV002512246] Chr4:9908313 [GRCh38]
Chr4:9909937 [GRCh37]
Chr4:4p16.1
likely pathogenic|uncertain significance
NM_000798.5(DRD5):c.724A>G (p.Ile242Val) single nucleotide variant not specified [RCV004218820] Chr4:9782753 [GRCh38]
Chr4:9784377 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1092G>C (p.Glu364Asp) single nucleotide variant Inborn genetic diseases [RCV002974764] Chr4:9908256 [GRCh38]
Chr4:9909880 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.233T>G (p.Val78Gly) single nucleotide variant not specified [RCV004212086] Chr4:9782262 [GRCh38]
Chr4:9783886 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.431A>G (p.Asn144Ser) single nucleotide variant not provided [RCV002780077] Chr4:9985773 [GRCh38]
Chr4:9987397 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1337A>G (p.Asp446Gly) single nucleotide variant not specified [RCV004182320] Chr4:9783366 [GRCh38]
Chr4:9784990 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1339C>T (p.Arg447Trp) single nucleotide variant Hypouricemia, renal, 2 [RCV003138309]|not provided [RCV002614730] Chr4:9834961 [GRCh38]
Chr4:9836585 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.832G>A (p.Gly278Ser) single nucleotide variant not provided [RCV002972461] Chr4:9920555 [GRCh38]
Chr4:9922179 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.251C>T (p.Ala84Val) single nucleotide variant not specified [RCV004115884] Chr4:9782280 [GRCh38]
Chr4:9783904 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.445A>G (p.Ile149Val) single nucleotide variant not provided [RCV002996010] Chr4:9985759 [GRCh38]
Chr4:9987383 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.60C>A (p.Asp20Glu) single nucleotide variant not provided [RCV003081141] Chr4:10021370 [GRCh38]
Chr4:10022994 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1028T>A (p.Val343Asp) single nucleotide variant not specified [RCV004196912] Chr4:9783057 [GRCh38]
Chr4:9784681 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1114-19C>T single nucleotide variant not provided [RCV002591317] Chr4:9890730 [GRCh38]
Chr4:9892354 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.625A>T (p.Ile209Phe) single nucleotide variant not provided [RCV002735518] Chr4:9980648 [GRCh38]
Chr4:9982272 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1313T>C (p.Phe438Ser) single nucleotide variant not specified [RCV004212642] Chr4:9783342 [GRCh38]
Chr4:9784966 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.403C>A (p.Leu135Ile) single nucleotide variant not provided [RCV002569848] Chr4:9996788 [GRCh38]
Chr4:9998412 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1618C>G (p.Pro540Ala) single nucleotide variant Inborn genetic diseases [RCV002692324] Chr4:9826402 [GRCh38]
Chr4:9828026 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1291+9C>T single nucleotide variant not provided [RCV003002138] Chr4:9887558 [GRCh38]
Chr4:9889182 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.768A>C (p.Pro256=) single nucleotide variant not provided [RCV002620911] Chr4:9941959 [GRCh38]
Chr4:9943583 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.815-18G>A single nucleotide variant not provided [RCV002795397] Chr4:9920590 [GRCh38]
Chr4:9922214 [GRCh37]
Chr4:4p16.1
benign
NM_020041.3(SLC2A9):c.1390G>T (p.Ala464Ser) single nucleotide variant Inborn genetic diseases [RCV002925220] Chr4:9834910 [GRCh38]
Chr4:9836534 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.567T>A (p.Leu189=) single nucleotide variant not provided [RCV002662560] Chr4:9980706 [GRCh38]
Chr4:9982330 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.724G>A (p.Ala242Thr) single nucleotide variant Inborn genetic diseases [RCV002848497] Chr4:9942003 [GRCh38]
Chr4:9943627 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.554C>T (p.Ala185Val) single nucleotide variant not specified [RCV004132977] Chr4:9782583 [GRCh38]
Chr4:9784207 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.238_239delinsTT (p.Ala80Phe) indel not provided [RCV002573730] Chr4:10018985..10018986 [GRCh38]
Chr4:10020609..10020610 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.723G>T (p.Met241Ile) single nucleotide variant not specified [RCV004206390] Chr4:9782752 [GRCh38]
Chr4:9784376 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1113+16G>A single nucleotide variant not provided [RCV002805716] Chr4:9908219 [GRCh38]
Chr4:9909843 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.802A>C (p.Arg268=) single nucleotide variant not provided [RCV002805548] Chr4:9941925 [GRCh38]
Chr4:9943549 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.70G>A (p.Ala24Thr) single nucleotide variant not provided [RCV002982778] Chr4:10021360 [GRCh38]
Chr4:10022984 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1255A>G (p.Ile419Val) single nucleotide variant not provided [RCV002801396] Chr4:9887603 [GRCh38]
Chr4:9889227 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.168C>T (p.Leu56=) single nucleotide variant not provided [RCV002852337] Chr4:10019056 [GRCh38]
Chr4:10020680 [GRCh37]
Chr4:4p16.1
likely benign
NM_000798.5(DRD5):c.83G>A (p.Gly28Glu) single nucleotide variant not specified [RCV004204860] Chr4:9782112 [GRCh38]
Chr4:9783736 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.540C>T (p.Val180=) single nucleotide variant not provided [RCV002594568] Chr4:9980733 [GRCh38]
Chr4:9982357 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1383C>T (p.Ser461=) single nucleotide variant not provided [RCV002625503] Chr4:9834917 [GRCh38]
Chr4:9836541 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.958G>T (p.Val320Leu) single nucleotide variant Inborn genetic diseases [RCV002827008] Chr4:9920429 [GRCh38]
Chr4:9922053 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.411-19A>T single nucleotide variant not provided [RCV002852691] Chr4:9985812 [GRCh38]
Chr4:9987436 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.249+18C>T single nucleotide variant not provided [RCV002574242] Chr4:10018957 [GRCh38]
Chr4:10020581 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.758C>T (p.Pro253Leu) single nucleotide variant Inborn genetic diseases [RCV002640868] Chr4:9941969 [GRCh38]
Chr4:9943593 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1315G>A (p.Gly439Ser) single nucleotide variant Inborn genetic diseases [RCV002954595] Chr4:9834985 [GRCh38]
Chr4:9836609 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1339G>A (p.Gly447Ser) single nucleotide variant not specified [RCV004226951] Chr4:9783368 [GRCh38]
Chr4:9784992 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.59A>C (p.Gln20Pro) single nucleotide variant not specified [RCV004094208] Chr4:9782088 [GRCh38]
Chr4:9783712 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.770G>A (p.Arg257His) single nucleotide variant Inborn genetic diseases [RCV002955878] Chr4:9941957 [GRCh38]
Chr4:9943581 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.122T>C (p.Val41Ala) single nucleotide variant not specified [RCV004225998] Chr4:9782151 [GRCh38]
Chr4:9783775 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1059C>G (p.Ile353Met) single nucleotide variant not provided [RCV002599532] Chr4:9908289 [GRCh38]
Chr4:9909913 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.541G>A (p.Ala181Thr) single nucleotide variant Hypouricemia, renal, 2 [RCV004763527]|not provided [RCV003063425] Chr4:9980732 [GRCh38]
Chr4:9982356 [GRCh37]
Chr4:4p16.1
likely pathogenic|uncertain significance
NM_020041.3(SLC2A9):c.372dup (p.Thr125fs) duplication not provided [RCV003029599] Chr4:9996818..9996819 [GRCh38]
Chr4:9998442..9998443 [GRCh37]
Chr4:4p16.1
pathogenic
NM_020041.3(SLC2A9):c.411-14T>C single nucleotide variant not provided [RCV003026630] Chr4:9985807 [GRCh38]
Chr4:9987431 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1215+8G>A single nucleotide variant SLC2A9-related disorder [RCV003926527]|not provided [RCV002922111] Chr4:9890602 [GRCh38]
Chr4:9892226 [GRCh37]
Chr4:4p16.1
benign|likely benign
NM_020041.3(SLC2A9):c.536-7T>C single nucleotide variant not provided [RCV002877589] Chr4:9980744 [GRCh38]
Chr4:9982368 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.422T>C (p.Leu141Ser) single nucleotide variant not provided [RCV003047663] Chr4:9985782 [GRCh38]
Chr4:9987406 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.546C>T (p.Leu182=) single nucleotide variant SLC2A9-related disorder [RCV003926411]|not provided [RCV002576929] Chr4:9980727 [GRCh38]
Chr4:9982351 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.535+19G>A single nucleotide variant not provided [RCV002579892] Chr4:9985650 [GRCh38]
Chr4:9987274 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1369G>A (p.Val457Ile) single nucleotide variant Hypouricemia, renal, 2 [RCV003138415]|not provided [RCV002966758] Chr4:9834931 [GRCh38]
Chr4:9836555 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1159G>A (p.Val387Met) single nucleotide variant not specified [RCV004157272] Chr4:9783188 [GRCh38]
Chr4:9784812 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.72_73delinsGA (p.Gly25Arg) indel not provided [RCV002599372] Chr4:10021357..10021358 [GRCh38]
Chr4:10022981..10022982 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1419+1G>A single nucleotide variant not provided [RCV002651819] Chr4:9834880 [GRCh38]
Chr4:9836504 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1420-6C>T single nucleotide variant not provided [RCV002598545] Chr4:9826606 [GRCh38]
Chr4:9828230 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.400G>A (p.Val134Ile) single nucleotide variant Inborn genetic diseases [RCV004966240] Chr4:9996791 [GRCh38]
Chr4:9998415 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1065C>T (p.Tyr355=) single nucleotide variant not provided [RCV002585055] Chr4:9908283 [GRCh38]
Chr4:9909907 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.250-213del deletion not provided [RCV003214134] Chr4:9997154 [GRCh38]
Chr4:9998778 [GRCh37]
Chr4:4p16.1
likely benign
NM_000798.5(DRD5):c.877A>G (p.Lys293Glu) single nucleotide variant not specified [RCV004266344] Chr4:9782906 [GRCh38]
Chr4:9784530 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.991G>C (p.Ala331Pro) single nucleotide variant not specified [RCV004267494] Chr4:9783020 [GRCh38]
Chr4:9784644 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.770G>A (p.Arg257His) single nucleotide variant not specified [RCV004267493] Chr4:9782799 [GRCh38]
Chr4:9784423 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.69G>C (p.Gln23His) single nucleotide variant not specified [RCV004268196] Chr4:9782098 [GRCh38]
Chr4:9783722 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.388A>G (p.Met130Val) single nucleotide variant Inborn genetic diseases [RCV003205059] Chr4:9996803 [GRCh38]
Chr4:9998427 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1123T>A (p.Cys375Ser) single nucleotide variant not specified [RCV004267899] Chr4:9783152 [GRCh38]
Chr4:9784776 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1010G>C (p.Ser337Thr) single nucleotide variant not specified [RCV004256999] Chr4:9783039 [GRCh38]
Chr4:9784663 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.94G>A (p.Ala32Thr) single nucleotide variant Hypouricemia, renal, 2 [RCV003136763] Chr4:10021336 [GRCh38]
Chr4:10022960 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.62C>T (p.Thr21Ile) single nucleotide variant Hypouricemia, renal, 2 [RCV003136764] Chr4:10021368 [GRCh38]
Chr4:10022992 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1105G>A (p.Val369Ile) single nucleotide variant Hypouricemia, renal, 2 [RCV003136765] Chr4:9908243 [GRCh38]
Chr4:9909867 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.340G>A (p.Asp114Asn) single nucleotide variant not specified [RCV004261535] Chr4:9782369 [GRCh38]
Chr4:9783993 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.772A>T (p.Arg258Trp) single nucleotide variant not specified [RCV004265990] Chr4:9782801 [GRCh38]
Chr4:9784425 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_000798.5(DRD5):c.473T>G (p.Leu158Trp) single nucleotide variant not specified [RCV004297514] Chr4:9782502 [GRCh38]
Chr4:9784126 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.161G>C (p.Cys54Ser) single nucleotide variant Inborn genetic diseases [RCV003265770] Chr4:10019063 [GRCh38]
Chr4:10020687 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13
pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12
pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
NM_000798.5(DRD5):c.936C>A (p.Phe312Leu) single nucleotide variant not specified [RCV004357892] Chr4:9782965 [GRCh38]
Chr4:9784589 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1405A>G (p.Thr469Ala) single nucleotide variant not specified [RCV004340379] Chr4:9783434 [GRCh38]
Chr4:9785058 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.154_155inv (p.Trp52Gln) inversion SLC2A9-related disorder [RCV003397230] Chr4:10019069..10019070 [GRCh38]
Chr4:10020693..10020694 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1520A>C (p.Tyr507Ser) single nucleotide variant not provided [RCV003457417] Chr4:9826500 [GRCh38]
Chr4:9828124 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.681+1G>T single nucleotide variant SLC2A9-related disorder [RCV003399553] Chr4:9980591 [GRCh38]
Chr4:9982215 [GRCh37]
Chr4:4p16.1
likely pathogenic
NM_001001290.2(SLC2A9):c.21C>T (p.Asp7=) single nucleotide variant SLC2A9-related disorder [RCV003938994]|not provided [RCV003439259] Chr4:10025946 [GRCh38]
Chr4:10027570 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.941G>A (p.Arg314His) single nucleotide variant SLC2A9-related disorder [RCV003402833] Chr4:9920446 [GRCh38]
Chr4:9922070 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.682-19G>A single nucleotide variant not provided [RCV003879945] Chr4:9942064 [GRCh38]
Chr4:9943688 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.564C>T (p.Tyr188=) single nucleotide variant not provided [RCV003579471] Chr4:9980709 [GRCh38]
Chr4:9982333 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1197C>G (p.Thr399=) single nucleotide variant not provided [RCV003544896] Chr4:9890628 [GRCh38]
Chr4:9892252 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1291+16C>A single nucleotide variant not provided [RCV003826868] Chr4:9887551 [GRCh38]
Chr4:9889175 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.150+8C>T single nucleotide variant not provided [RCV003691421] Chr4:10021272 [GRCh38]
Chr4:10022896 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.150+15C>G single nucleotide variant not provided [RCV003836291] Chr4:10021265 [GRCh38]
Chr4:10022889 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.535+18C>T single nucleotide variant not provided [RCV003811365] Chr4:9985651 [GRCh38]
Chr4:9987275 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.723T>A (p.Pro241=) single nucleotide variant not provided [RCV003814676] Chr4:9942004 [GRCh38]
Chr4:9943628 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.535+10C>A single nucleotide variant not provided [RCV003669870] Chr4:9985659 [GRCh38]
Chr4:9987283 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.612G>A (p.Val204=) single nucleotide variant not provided [RCV003667365] Chr4:9980661 [GRCh38]
Chr4:9982285 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.186G>T (p.Ala62=) single nucleotide variant not provided [RCV003673015] Chr4:10019038 [GRCh38]
Chr4:10020662 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1002+17G>A single nucleotide variant not provided [RCV003834737] Chr4:9920368 [GRCh38]
Chr4:9921992 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.150+16T>C single nucleotide variant not provided [RCV003549480] Chr4:10021264 [GRCh38]
Chr4:10022888 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.249+19C>G single nucleotide variant not provided [RCV003671555] Chr4:10018956 [GRCh38]
Chr4:10020580 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.105G>A (p.Glu35=) single nucleotide variant not provided [RCV003736284] Chr4:10021325 [GRCh38]
Chr4:10022949 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.84G>A (p.Gly28=) single nucleotide variant not provided [RCV003823089] Chr4:10021346 [GRCh38]
Chr4:10022970 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1287del (p.Pro430fs) deletion not provided [RCV003682622] Chr4:9887571 [GRCh38]
Chr4:9889195 [GRCh37]
Chr4:4p16.1
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.1(chr4:9930962-9956639)x1 copy number loss not specified [RCV003986526] Chr4:9930962..9956639 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.815-16G>A single nucleotide variant not provided [RCV003853302] Chr4:9920588 [GRCh38]
Chr4:9922212 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1291+6G>A single nucleotide variant not provided [RCV003819732] Chr4:9887561 [GRCh38]
Chr4:9889185 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1152C>T (p.Leu384=) single nucleotide variant not provided [RCV003704171] Chr4:9890673 [GRCh38]
Chr4:9892297 [GRCh37]
Chr4:4p16.1
likely benign
NM_000798.5(DRD5):c.804C>G (p.His268Gln) single nucleotide variant DRD5-related disorder [RCV003911601] Chr4:9782833 [GRCh38]
Chr4:9784457 [GRCh37]
Chr4:4p16.1
benign
NM_000798.5(DRD5):c.631G>A (p.Asp211Asn) single nucleotide variant DRD5-related disorder [RCV003906929] Chr4:9782660 [GRCh38]
Chr4:9784284 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.611_613dup (p.Val204_Thr205insMet) duplication Hypouricemia, renal, 2 [RCV003990368] Chr4:9980659..9980660 [GRCh38]
Chr4:9982283..9982284 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1004T>A (p.Ile335Asn) single nucleotide variant Inborn genetic diseases [RCV004968565]|SLC2A9-related disorder [RCV003914507] Chr4:9908344 [GRCh38]
Chr4:9909968 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.213C>T (p.Tyr71=) single nucleotide variant SLC2A9-related disorder [RCV003962066] Chr4:10019011 [GRCh38]
Chr4:10020635 [GRCh37]
Chr4:4p16.1
likely benign
NM_000798.5(DRD5):c.-5C>G single nucleotide variant DRD5-related disorder [RCV003927102] Chr4:9782025 [GRCh38]
Chr4:9783649 [GRCh37]
Chr4:4p16.1
likely benign
NM_000798.5(DRD5):c.216C>G (p.Arg72=) single nucleotide variant DRD5-related disorder [RCV003979441] Chr4:9782245 [GRCh38]
Chr4:9783869 [GRCh37]
Chr4:4p16.1
likely benign
NM_000798.5(DRD5):c.186C>A (p.Cys62Ter) single nucleotide variant DRD5-related disorder [RCV003933907] Chr4:9782215 [GRCh38]
Chr4:9783839 [GRCh37]
Chr4:4p16.1
likely benign
NM_000798.5(DRD5):c.1009A>T (p.Ser337Cys) single nucleotide variant not specified [RCV004377114] Chr4:9783038 [GRCh38]
Chr4:9784662 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1408C>T (p.Pro470Ser) single nucleotide variant not specified [RCV004377116] Chr4:9783437 [GRCh38]
Chr4:9785061 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.491C>A (p.Ala164Glu) single nucleotide variant not specified [RCV004377119] Chr4:9782520 [GRCh38]
Chr4:9784144 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.818G>A (p.Arg273Gln) single nucleotide variant not specified [RCV004377124] Chr4:9782847 [GRCh38]
Chr4:9784471 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
NM_000798.5(DRD5):c.1041C>G (p.Phe347Leu) single nucleotide variant not specified [RCV004377115] Chr4:9783070 [GRCh38]
Chr4:9784694 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.463C>T (p.Arg155Cys) single nucleotide variant not specified [RCV004377118] Chr4:9782492 [GRCh38]
Chr4:9784116 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.760G>A (p.Val254Met) single nucleotide variant not specified [RCV004377122] Chr4:9782789 [GRCh38]
Chr4:9784413 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.788A>G (p.Glu263Gly) single nucleotide variant not specified [RCV004377123] Chr4:9782817 [GRCh38]
Chr4:9784441 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.332C>A (p.Ala111Glu) single nucleotide variant not specified [RCV004377117] Chr4:9782361 [GRCh38]
Chr4:9783985 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.536A>G (p.Asn179Ser) single nucleotide variant not specified [RCV004377120] Chr4:9782565 [GRCh38]
Chr4:9784189 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.179C>A (p.Ser60Tyr) single nucleotide variant Inborn genetic diseases [RCV004459100] Chr4:10019045 [GRCh38]
Chr4:10020669 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1173G>A (p.Met391Ile) single nucleotide variant Inborn genetic diseases [RCV004459098] Chr4:9890652 [GRCh38]
Chr4:9892276 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1438T>C (p.Cys480Arg) single nucleotide variant Inborn genetic diseases [RCV004459099] Chr4:9826582 [GRCh38]
Chr4:9828206 [GRCh37]
Chr4:4p16.1
uncertain significance
NC_000004.11:g.(?_2357152)_(15176083_?)del deletion not provided [RCV004580846] Chr4:2357152..15176083 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
NM_000798.5(DRD5):c.1268G>A (p.Arg423Gln) single nucleotide variant not specified [RCV004619855] Chr4:9783297 [GRCh38]
Chr4:9784921 [GRCh37]
Chr4:4p16.1
uncertain significance
NC_000004.11:g.(?_9943517)_(9943689_?)del deletion not provided [RCV004580859] Chr4:9943517..9943689 [GRCh37]
Chr4:4p16.1
pathogenic
NM_000798.5(DRD5):c.1006G>A (p.Val336Ile) single nucleotide variant not specified [RCV004619858] Chr4:9783035 [GRCh38]
Chr4:9784659 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.313G>T (p.Gly105Cys) single nucleotide variant not specified [RCV004619856] Chr4:9782342 [GRCh38]
Chr4:9783966 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1091A>G (p.Asp364Gly) single nucleotide variant not specified [RCV004619857] Chr4:9783120 [GRCh38]
Chr4:9784744 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.34C>A (p.Leu12Met) single nucleotide variant Inborn genetic diseases [RCV004672520] Chr4:10021396 [GRCh38]
Chr4:10023020 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1202C>T (p.Thr401Met) single nucleotide variant Hypouricemia, renal, 2 [RCV004759736]   likely pathogenic
NM_020041.3(SLC2A9):c.150+4A>C single nucleotide variant SLC2A9-related disorder [RCV004739871] Chr4:10021276 [GRCh38]
Chr4:10022900 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.570T>G (p.Ser190Arg) single nucleotide variant Hypouricemia, renal, 2 [RCV004759735]   likely pathogenic
NM_020041.3(SLC2A9):c.1105G>T (p.Val369Phe) single nucleotide variant Inborn genetic diseases [RCV004971338] Chr4:9908243 [GRCh38]
Chr4:9909867 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.49C>G (p.Leu17Val) single nucleotide variant not specified [RCV004914375] Chr4:9782078 [GRCh38]
Chr4:9783702 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.464G>A (p.Arg155His) single nucleotide variant not specified [RCV004914373] Chr4:9782493 [GRCh38]
Chr4:9784117 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.68A>G (p.His23Arg) single nucleotide variant Inborn genetic diseases [RCV004971341] Chr4:10021362 [GRCh38]
Chr4:10022986 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.574G>A (p.Asp192Asn) single nucleotide variant not specified [RCV004914372] Chr4:9782603 [GRCh38]
Chr4:9784227 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_000798.5(DRD5):c.1408C>A (p.Pro470Thr) single nucleotide variant not specified [RCV004914374] Chr4:9783437 [GRCh38]
Chr4:9785061 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1612G>A (p.Gly538Arg) single nucleotide variant Inborn genetic diseases [RCV004971339] Chr4:9826408 [GRCh38]
Chr4:9828032 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.581C>G (p.Pro194Arg) single nucleotide variant Inborn genetic diseases [RCV004971343] Chr4:9980692 [GRCh38]
Chr4:9982316 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.125G>T (p.Gly42Val) single nucleotide variant Inborn genetic diseases [RCV004971340] Chr4:10021305 [GRCh38]
Chr4:10022929 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.145A>G (p.Arg49Gly) single nucleotide variant Inborn genetic diseases [RCV004971342] Chr4:10021285 [GRCh38]
Chr4:10022909 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.1-15.33(chr4:7518112-12949656)x3 copy number gain not provided [RCV004819473] Chr4:7518112..12949656 [GRCh37]
Chr4:4p16.1-15.33
uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3 copy number gain not provided [RCV004819301] Chr4:68346..16744084 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
NM_000798.5(DRD5):c.1109C>A (p.Ala370Asp) single nucleotide variant Attention deficit-hyperactivity disorder, susceptibility to, 7 [RCV005208369] Chr4:9783138 [GRCh38]
Chr4:9784762 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1557dup (p.Ala520fs) duplication Hypouricemia, renal, 2 [RCV005234894] Chr4:9826462..9826463 [GRCh38]
Chr4:9828086..9828087 [GRCh37]
Chr4:4p16.1
likely pathogenic
NM_020041.3(SLC2A9):c.269A>G (p.Asn90Ser) single nucleotide variant not provided [RCV005176219] Chr4:9996922 [GRCh38]
Chr4:9998546 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.1380C>T (p.Leu460=) single nucleotide variant not provided [RCV005148073] Chr4:9834920 [GRCh38]
Chr4:9836544 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.195C>T (p.Phe65=) single nucleotide variant not provided [RCV005132965] Chr4:10019029 [GRCh38]
Chr4:10020653 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.463A>G (p.Met155Val) single nucleotide variant not provided [RCV005194184] Chr4:9985741 [GRCh38]
Chr4:9987365 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.363A>C (p.Gly121=) single nucleotide variant not provided [RCV005074168] Chr4:9996828 [GRCh38]
Chr4:9998452 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1554C>A (p.Asn518Lys) single nucleotide variant Hypouricemia, renal, 2 [RCV005234895] Chr4:9826466 [GRCh38]
Chr4:9828090 [GRCh37]
Chr4:4p16.1
uncertain significance
NM_020041.3(SLC2A9):c.537C>T (p.Gly179=) single nucleotide variant not provided [RCV005110838] Chr4:9980736 [GRCh38]
Chr4:9982360 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.882C>T (p.Arg294=) single nucleotide variant not provided [RCV005185154] Chr4:9920505 [GRCh38]
Chr4:9922129 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.780C>G (p.Leu260=) single nucleotide variant not provided [RCV005130369] Chr4:9941947 [GRCh38]
Chr4:9943571 [GRCh37]
Chr4:4p16.1
likely benign
NM_020041.3(SLC2A9):c.1291+149A>G single nucleotide variant not provided [RCV001649468] Chr4:9887418 [GRCh38]
Chr4:9889042 [GRCh37]
Chr4:4p16.1
benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1813
Count of miRNA genes:895
Interacting mature miRNAs:1066
Transcripts:ENST00000264784, ENST00000309065, ENST00000481042, ENST00000503280, ENST00000503803, ENST00000505104, ENST00000505506, ENST00000506583, ENST00000506839, ENST00000508585, ENST00000509214, ENST00000512342, ENST00000513129
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597426586GWAS1522660_Hgout QTL GWAS1522660 (human)5e-61gout499308559930856Human
597140880GWAS1236954_Huric acid measurement QTL GWAS1236954 (human)1e-300uric acid measurementblood uric acid level (CMO:0000501)499829179982918Human
597396371GWAS1492445_Huric acid measurement QTL GWAS1492445 (human)4e-16uric acid measurementblood uric acid level (CMO:0000501)499240689924069Human
597325712GWAS1421786_Hurate measurement QTL GWAS1421786 (human)2e-59urate measurementblood uric acid level (CMO:0000501)499300219930022Human
597325713GWAS1421787_Hurate measurement QTL GWAS1421787 (human)6e-56urate measurementblood uric acid level (CMO:0000501)41000104110001042Human
597426577GWAS1522651_Hgout QTL GWAS1522651 (human)1e-68gout499308559930856Human
597426057GWAS1522131_Hurate measurement QTL GWAS1522131 (human)1e-300urate measurementblood uric acid level (CMO:0000501)498063949806395Human
406965843GWAS614819_Huric acid measurement QTL GWAS614819 (human)9e-31uric acid measurementblood uric acid level (CMO:0000501)499141179914118Human
597093771GWAS1189845_Hgout QTL GWAS1189845 (human)0.000008gout499141179914118Human
597140873GWAS1236947_Huric acid measurement QTL GWAS1236947 (human)2e-60uric acid measurementblood uric acid level (CMO:0000501)41000315410003155Human
597461437GWAS1557511_Hurate measurement QTL GWAS1557511 (human)3e-26urate measurementblood uric acid level (CMO:0000501)41000734010007341Human
597419449GWAS1515523_Hgout QTL GWAS1515523 (human)3e-60gout499936329993633Human
407023713GWAS672689_Hurate measurement QTL GWAS672689 (human)7e-24urate measurementblood uric acid level (CMO:0000501)499141179914118Human
597040560GWAS1136634_Hgout QTL GWAS1136634 (human)1e-19gout499935589993559Human
597222832GWAS1318906_Hurate measurement QTL GWAS1318906 (human)2e-20urate measurementblood uric acid level (CMO:0000501)499544559954456Human
407040107GWAS689083_Hgout QTL GWAS689083 (human)0.0000002gout499213809921381Human
597419445GWAS1515519_Hgout QTL GWAS1515519 (human)2e-13gout499802659980266Human
597614513GWAS1671373_Hgout QTL GWAS1671373 (human)2e-304gout499187239918724Human
597136824GWAS1232898_Hhistidine measurement QTL GWAS1232898 (human)9e-08histidine measurementblood amino acid measurement (CMO:0003730)499544559954456Human
597579182GWAS1636042_Hgout QTL GWAS1636042 (human)1e-323gout499187239918724Human
597127589GWAS1223663_Hhyperuricemia QTL GWAS1223663 (human)5e-43hyperuricemia41000023710000238Human
597059493GWAS1155567_Huric acid measurement QTL GWAS1155567 (human)7e-19uric acid measurementblood uric acid level (CMO:0000501)499253439925344Human
597127586GWAS1223660_Hhyperuricemia QTL GWAS1223660 (human)3e-95hyperuricemia499935589993559Human
597127585GWAS1223659_Hhyperuricemia QTL GWAS1223659 (human)8e-10hyperuricemia498889119888912Human
597502379GWAS1598453_Hurate measurement QTL GWAS1598453 (human)1e-73urate measurementblood uric acid level (CMO:0000501)499956799995680Human
597059489GWAS1155563_Huric acid measurement QTL GWAS1155563 (human)9e-32uric acid measurementblood uric acid level (CMO:0000501)499935589993559Human
597450663GWAS1546737_Hurate measurement QTL GWAS1546737 (human)5e-11urate measurementblood uric acid level (CMO:0000501)498147859814786Human
597319590GWAS1415664_Hindolelactate measurement QTL GWAS1415664 (human)1e-10indolelactate measurement499253439925344Human
597160875GWAS1256949_Huric acid measurement QTL GWAS1256949 (human)4e-227uric acid measurementblood uric acid level (CMO:0000501)499935589993559Human
597075881GWAS1171955_Huric acid measurement QTL GWAS1171955 (human)9e-15uric acid measurementblood uric acid level (CMO:0000501)499168689916869Human
597477341GWAS1573415_HDNA methylation QTL GWAS1573415 (human)3e-42DNA methylation41000829310008294Human
597117906GWAS1213980_Huric acid measurement QTL GWAS1213980 (human)2e-16uric acid measurementblood uric acid level (CMO:0000501)499935589993559Human
597040595GWAS1136669_Hgout QTL GWAS1136669 (human)4e-41gout499936329993633Human
407027720GWAS676696_Hurate measurement QTL GWAS676696 (human)1e-700urate measurementblood uric acid level (CMO:0000501)499424289942429Human
597061596GWAS1157670_Hbasophil count QTL GWAS1157670 (human)1e-10basophil quantity (VT:0002607)blood basophil count (CMO:0000034)499983349998335Human
407025165GWAS674141_Hurate measurement QTL GWAS674141 (human)3e-09urate measurementblood uric acid level (CMO:0000501)499331209933121Human
597268938GWAS1365012_Huric acid measurement QTL GWAS1365012 (human)6e-16uric acid measurementblood uric acid level (CMO:0000501)499195589919560Human
597356483GWAS1452557_HCleft palate, environmental tobacco smoke exposure measurement QTL GWAS1452557 (human)0.000002Cleft palate, environmental tobacco smoke exposure measurement41003471510034716Human
597611972GWAS1668832_Htemporomandibular joint disorder QTL GWAS1668832 (human)3e-11temporomandibular joint disorder498815579881558Human
597268933GWAS1365007_Hmetabolite measurement QTL GWAS1365007 (human)3e-11metabolite measurement499187239918724Human
597268932GWAS1365006_Hmetabolite measurement QTL GWAS1365006 (human)9e-15metabolite measurement499195589919560Human
597581310GWAS1638170_Huric acid measurement QTL GWAS1638170 (human)6e-173uric acid measurementblood uric acid level (CMO:0000501)499935589993559Human
597242872GWAS1338946_Hurate measurement QTL GWAS1338946 (human)1e-26urate measurementblood uric acid level (CMO:0000501)499312589931259Human
597345784GWAS1441858_Hurate measurement QTL GWAS1441858 (human)3e-3129urate measurementblood uric acid level (CMO:0000501)499300219930022Human
407024673GWAS673649_Hurate measurement QTL GWAS673649 (human)7e-168urate measurementblood uric acid level (CMO:0000501)499205439920544Human
597613558GWAS1670418_Hdrug use measurement, gout QTL GWAS1670418 (human)8e-229drug use measurement, gout499187239918724Human
597256688GWAS1352762_Hurate measurement QTL GWAS1352762 (human)3e-116urate measurementblood uric acid level (CMO:0000501)499204889920489Human
597046777GWAS1142851_Herythrocyte count QTL GWAS1142851 (human)0.0000001erythrocyte countred blood cell count (CMO:0000025)499253439925344Human
597464044GWAS1560118_Huric acid measurement QTL GWAS1560118 (human)4e-72uric acid measurementblood uric acid level (CMO:0000501)41002198310021984Human
597464045GWAS1560119_Huric acid measurement QTL GWAS1560119 (human)2e-20uric acid measurementblood uric acid level (CMO:0000501)497717309771731Human
597097959GWAS1194033_Hurate measurement QTL GWAS1194033 (human)2e-13urate measurementblood uric acid level (CMO:0000501)499952669995267Human
597207530GWAS1303604_Hurate measurement QTL GWAS1303604 (human)1e-1486urate measurementblood uric acid level (CMO:0000501)499936169993617Human
406968887GWAS617863_Hgout QTL GWAS617863 (human)2e-13gout499857009985701Human
597464043GWAS1560117_Huric acid measurement QTL GWAS1560117 (human)3e-49uric acid measurementblood uric acid level (CMO:0000501)41002724310027244Human
597097964GWAS1194038_Hgout QTL GWAS1194038 (human)0.0000001gout499593969959399Human
597255653GWAS1351727_Hheptachlor measurement QTL GWAS1351727 (human)0.00001heptachlor epoxide measurement498953149895315Human
597255655GWAS1351729_Hheptachlor measurement QTL GWAS1351729 (human)0.00001diazinon measurement499076719907672Human
597255654GWAS1351728_Hheptachlor measurement QTL GWAS1351728 (human)0.000012,4,5-trichlorophenol measurement498999399899940Human
597280539GWAS1376613_Hurate measurement QTL GWAS1376613 (human)8e-29urate measurementblood uric acid level (CMO:0000501)499968169996817Human
597419800GWAS1515874_Hgout QTL GWAS1515874 (human)7e-19gout499936329993633Human
407229121GWAS878097_Hurate measurement QTL GWAS878097 (human)4e-14urate measurementblood uric acid level (CMO:0000501)499187239918724Human
407023814GWAS672790_Huric acid measurement QTL GWAS672790 (human)1e-192uric acid measurementblood uric acid level (CMO:0000501)499213809921381Human
407229120GWAS878096_Hurate measurement QTL GWAS878096 (human)3e-59urate measurementblood uric acid level (CMO:0000501)499253439925344Human
597269791GWAS1365865_Hmetabolite measurement QTL GWAS1365865 (human)2e-16metabolite measurement499195589919560Human
407026372GWAS675348_Hgout, urate measurement QTL GWAS675348 (human)4e-13gout, urate measurementblood uric acid level (CMO:0000501)499253439925344Human
597231902GWAS1327976_Hgout QTL GWAS1327976 (human)5e-26gout499205439920544Human
407023818GWAS672794_Huric acid measurement QTL GWAS672794 (human)1e-41uric acid measurementblood uric acid level (CMO:0000501)499213809921381Human
597071645GWAS1167719_Huric acid measurement QTL GWAS1167719 (human)4e-19uric acid measurementblood uric acid level (CMO:0000501)499876099987610Human
597419798GWAS1515872_Hgout QTL GWAS1515872 (human)1e-29gout499936329993633Human
407019725GWAS668701_Huric acid measurement QTL GWAS668701 (human)1e-11uric acid measurementblood uric acid level (CMO:0000501)499205439920544Human
597117190GWAS1213264_Huric acid measurement QTL GWAS1213264 (human)4e-218uric acid measurementblood uric acid level (CMO:0000501)499935589993559Human
407024853GWAS673829_Huric acid measurement QTL GWAS673829 (human)2e-19uric acid measurementblood uric acid level (CMO:0000501)499253439925344Human
597086478GWAS1182552_Hserum metabolite measurement QTL GWAS1182552 (human)9e-38serum metabolite measurement499375819937582Human
597524742GWAS1620816_Hsmoking initiation QTL GWAS1620816 (human)1e-14smoking initiation41002705410027055Human
597143819GWAS1239893_Hhistidine measurement QTL GWAS1239893 (human)2e-14histidine measurementblood amino acid measurement (CMO:0003730)499766819976682Human
597141303GWAS1237377_Hallantoin measurement QTL GWAS1237377 (human)4e-19allantoin measurement499942059994206Human
597387070GWAS1483144_Hexcessive daytime sleepiness measurement QTL GWAS1483144 (human)4e-09sleep behavior trait (VT:0001501)41002617110026172Human
597127473GWAS1223547_Hgout QTL GWAS1223547 (human)2e-09gout499857009985701Human
597270321GWAS1366395_Hmetabolite measurement QTL GWAS1366395 (human)2e-14metabolite measurement499195589919560Human
407039720GWAS688696_Hurate measurement, blood metabolite measurement QTL GWAS688696 (human)2e-59urate measurement, blood metabolite measurementblood metabolite measurement (CMO:0003699)499331209933121Human
597088059GWAS1184133_Hserum metabolite measurement QTL GWAS1184133 (human)5e-11serum metabolite measurement499838219983822Human
597520178GWAS1616252_Hurate measurement QTL GWAS1616252 (human)9e-3553urate measurementblood uric acid level (CMO:0000501)499956799995680Human
597091623GWAS1187697_Huric acid measurement QTL GWAS1187697 (human)3e-18uric acid measurementblood uric acid level (CMO:0000501)499205439920544Human
597091620GWAS1187694_Huric acid measurement QTL GWAS1187694 (human)2e-19uric acid measurementblood uric acid level (CMO:0000501)499935589993559Human
597188908GWAS1284982_Hurate measurement QTL GWAS1284982 (human)1e-67urate measurementblood uric acid level (CMO:0000501)499829179982918Human
406957303GWAS606279_Hurate measurement QTL GWAS606279 (human)2e-17urate measurementblood uric acid level (CMO:0000501)499925919992592Human
597337388GWAS1433462_Hbreast density QTL GWAS1433462 (human)0.0000004breast density41000237610002377Human
597231906GWAS1327980_Hgout QTL GWAS1327980 (human)3e-12gout499445399944540Human
597579040GWAS1635900_Hgout QTL GWAS1635900 (human)2e-91gout499956799995680Human
597196123GWAS1292197_Huric acid measurement QTL GWAS1292197 (human)6e-496uric acid measurementblood uric acid level (CMO:0000501)499936329993633Human
597242206GWAS1338280_Hurate measurement QTL GWAS1338280 (human)4e-44urate measurementblood uric acid level (CMO:0000501)499213849921385Human
596983644GWAS1103163_Htelomere length QTL GWAS1103163 (human)4e-14telomere length499308559930856Human
406950553GWAS599529_Huric acid measurement QTL GWAS599529 (human)3e-08uric acid measurementblood uric acid level (CMO:0000501)499226959922696Human
597427013GWAS1523087_Hgout QTL GWAS1523087 (human)8e-12gout499308559930856Human
407024796GWAS673772_Huric acid measurement QTL GWAS673772 (human)1e-08uric acid measurementblood uric acid level (CMO:0000501)499935589993559Human
597308790GWAS1404864_Hvaginal microbiome measurement QTL GWAS1404864 (human)0.000001vaginal microbiome measurement499130649913065Human
597428080GWAS1524154_Hurate measurement QTL GWAS1524154 (human)6e-14urate measurementblood uric acid level (CMO:0000501)41001906910019070Human
597108088GWAS1204162_Hurate measurement QTL GWAS1204162 (human)2e-475urate measurementblood uric acid level (CMO:0000501)499137019913702Human
597117796GWAS1213870_Huric acid measurement QTL GWAS1213870 (human)1e-300uric acid measurementblood uric acid level (CMO:0000501)499935589993559Human
597324140GWAS1420214_Horotidine measurement QTL GWAS1420214 (human)4e-09orotidine measurement499804209980421Human
597374816GWAS1470890_Heconomic and social preference QTL GWAS1470890 (human)0.000004economic and social preference497890889789089Human
407026366GWAS675342_Hurate measurement QTL GWAS675342 (human)2e-242urate measurementblood uric acid level (CMO:0000501)499253439925344Human
597349223GWAS1445297_Hurate measurement QTL GWAS1445297 (human)9e-474urate measurementblood uric acid level (CMO:0000501)499935589993559Human
597347687GWAS1443761_Huric acid measurement QTL GWAS1443761 (human)4e-09uric acid measurementblood uric acid level (CMO:0000501)41000023710000238Human
597334680GWAS1430754_Htrait in response to triamcinolone acetonide, ocular hypertension QTL GWAS1430754 (human)7e-13trait in response to triamcinolone acetonide, ocular hypertension498349159834916Human
407040320GWAS689296_Huric acid measurement QTL GWAS689296 (human)1e-80uric acid measurementblood uric acid level (CMO:0000501)499213809921381Human
597207709GWAS1303783_Hurate measurement QTL GWAS1303783 (human)4e-27urate measurementblood uric acid level (CMO:0000501)499829179982918Human
597060252GWAS1156326_Hvital capacity QTL GWAS1156326 (human)2e-08vital capacity499259299925930Human
597608081GWAS1664941_Hgout QTL GWAS1664941 (human)4e-30gout499956799995680Human
597241992GWAS1338066_Hurate measurement QTL GWAS1338066 (human)1e-61urate measurementblood uric acid level (CMO:0000501)498482409848241Human
597360783GWAS1456857_Hgut microbiome measurement, taxonomic microbiome measurement QTL GWAS1456857 (human)3e-09gut microbiome measurement, taxonomic microbiome measurement498164929816493Human
597320333GWAS1416407_Hurate measurement QTL GWAS1416407 (human)7e-175urate measurementblood uric acid level (CMO:0000501)499253439925344Human
597241987GWAS1338061_Hurate measurement QTL GWAS1338061 (human)2e-57urate measurementblood uric acid level (CMO:0000501)499987329998733Human
597241986GWAS1338060_Hurate measurement QTL GWAS1338060 (human)4e-59urate measurementblood uric acid level (CMO:0000501)498927479892748Human
597608069GWAS1664929_Hdrug use measurement, gout QTL GWAS1664929 (human)5e-254drug use measurement, gout499187239918724Human
597243065GWAS1339139_Hurate measurement QTL GWAS1339139 (human)1e-39urate measurementblood uric acid level (CMO:0000501)498268789826879Human
597140151GWAS1236225_Hgout QTL GWAS1236225 (human)2e-17gout499936329993633Human
597426360GWAS1522434_Hgout QTL GWAS1522434 (human)8e-179gout499444719944472Human
597607607GWAS1664467_Hgout QTL GWAS1664467 (human)3e-29gout499187239918724Human
597270197GWAS1366271_Hmetabolite measurement QTL GWAS1366271 (human)4e-12metabolite measurement499195589919560Human
597270199GWAS1366273_Hmetabolite measurement QTL GWAS1366273 (human)1e-15metabolite measurement499195589919560Human
597243062GWAS1339136_Hurate measurement QTL GWAS1339136 (human)6e-40urate measurementblood uric acid level (CMO:0000501)499165099916510Human
597071545GWAS1167619_Huric acid measurement QTL GWAS1167619 (human)2e-13uric acid measurementblood uric acid level (CMO:0000501)499856029985603Human
597140135GWAS1236209_Hgout QTL GWAS1236209 (human)5e-19gout499398109939811Human
597270696GWAS1366770_Hmetabolite measurement QTL GWAS1366770 (human)1e-11metabolite measurement499195589919560Human
597049509GWAS1145583_Hurate measurement QTL GWAS1145583 (human)2e-251urate measurementblood uric acid level (CMO:0000501)499141179914118Human
407027572GWAS676548_Hgout QTL GWAS676548 (human)4e-26gout499450329945033Human
597580455GWAS1637315_Hgout QTL GWAS1637315 (human)1e-92gout499956799995680Human
597270691GWAS1366765_Hmetabolite measurement QTL GWAS1366765 (human)3e-12metabolite measurement499195589919560Human
597606564GWAS1663424_Hgout QTL GWAS1663424 (human)1e-107gout499956799995680Human
597140136GWAS1236210_Hgout QTL GWAS1236210 (human)8e-09gout499544559954456Human
597461722GWAS1557796_Hurate measurement QTL GWAS1557796 (human)1e-46urate measurementblood uric acid level (CMO:0000501)498138169813817Human
597038299GWAS1134373_Hsalivary metabolite measurement, urate measurement QTL GWAS1134373 (human)1e-14salivary metabolite measurement, urate measurementblood uric acid level (CMO:0000501)499253439925344Human
407227159GWAS876135_Hurate measurement QTL GWAS876135 (human)8e-150urate measurementblood uric acid level (CMO:0000501)499253439925344Human
597265615GWAS1361689_Hurate measurement QTL GWAS1361689 (human)6e-20urate measurementblood uric acid level (CMO:0000501)499331209933121Human
407227155GWAS876131_Hurate measurement QTL GWAS876131 (human)2e-134urate measurementblood uric acid level (CMO:0000501)499839729983973Human
597206734GWAS1302808_Hurate measurement QTL GWAS1302808 (human)5e-87urate measurementblood uric acid level (CMO:0000501)499936329993633Human
407047956GWAS696932_Hserum metabolite measurement QTL GWAS696932 (human)5e-21serum metabolite measurement41000104110001042Human
597256897GWAS1352971_Hurate measurement QTL GWAS1352971 (human)3e-16urate measurementblood uric acid level (CMO:0000501)498709579870958Human
407023386GWAS672362_Hurate measurement QTL GWAS672362 (human)2e-15urate measurementblood uric acid level (CMO:0000501)499647569964757Human
597510853GWAS1606927_Hgout QTL GWAS1606927 (human)7e-15gout41002495610024957Human
597240517GWAS1336591_Hurate measurement QTL GWAS1336591 (human)5e-390urate measurementblood uric acid level (CMO:0000501)499145099914510Human
407227161GWAS876137_Hurate measurement QTL GWAS876137 (human)1e-29urate measurementblood uric acid level (CMO:0000501)499205439920544Human
597240516GWAS1336590_Hurate measurement QTL GWAS1336590 (human)3e-648urate measurementblood uric acid level (CMO:0000501)498934469893447Human
597240518GWAS1336592_Hurate measurement QTL GWAS1336592 (human)2e-340urate measurementblood uric acid level (CMO:0000501)499158609915861Human
597495037GWAS1591111_Hurate measurement QTL GWAS1591111 (human)6e-93urate measurementblood uric acid level (CMO:0000501)499240689924069Human
597265144GWAS1361218_Hhistidine measurement QTL GWAS1361218 (human)4e-10histidine measurementblood amino acid measurement (CMO:0003730)499701259970126Human
597420280GWAS1516354_Hurate measurement QTL GWAS1516354 (human)5e-44urate measurementblood uric acid level (CMO:0000501)498090909809091Human
597071093GWAS1167167_Huric acid measurement QTL GWAS1167167 (human)6e-184uric acid measurementblood uric acid level (CMO:0000501)499837529983753Human
407026468GWAS675444_Hurate measurement QTL GWAS675444 (human)2e-16urate measurementblood uric acid level (CMO:0000501)499342869934287Human
597579001GWAS1635861_Hgout QTL GWAS1635861 (human)4e-33gout499956799995680Human
597117183GWAS1213257_Huric acid measurement QTL GWAS1213257 (human)2e-224uric acid measurementblood uric acid level (CMO:0000501)499837529983753Human
596977917GWAS1097436_Hbody height QTL GWAS1097436 (human)3e-08body height41001223710012238Human
597311735GWAS1407809_Hvaginal microbiome measurement QTL GWAS1407809 (human)0.000008vaginal microbiome measurement499130649913065Human
597420276GWAS1516350_Hurate measurement QTL GWAS1516350 (human)3e-56urate measurementblood uric acid level (CMO:0000501)497862129786213Human
597140216GWAS1236290_Hurate-to-histidine ratio QTL GWAS1236290 (human)6e-68urate-to-histidine ratio499259969925997Human
597419754GWAS1515828_Hgout QTL GWAS1515828 (human)8e-55gout499936329993633Human
597383401GWAS1479475_HFEV/FVC ratio QTL GWAS1479475 (human)2e-08FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)41003191410031915Human
597269743GWAS1365817_Hmetabolite measurement QTL GWAS1365817 (human)1e-14metabolite measurement499195589919560Human
597464298GWAS1560372_Huric acid measurement QTL GWAS1560372 (human)2e-25uric acid measurementblood uric acid level (CMO:0000501)41003452210034523Human
407227845GWAS876821_Hurate measurement QTL GWAS876821 (human)1e-31urate measurementblood uric acid level (CMO:0000501)499187239918724Human
597490717GWAS1586791_Horal microbiome measurement QTL GWAS1586791 (human)6e-13mouth morphology trait (VT:0000452)41002650710026508Human
597257245GWAS1353319_Hurate measurement QTL GWAS1353319 (human)1e-11urate measurementblood uric acid level (CMO:0000501)498337289833729Human
597066768GWAS1162842_Hsusceptibility to mumps measurement QTL GWAS1162842 (human)0.0000008response to viral infection trait (VT:0010439)498482409848241Human
407227843GWAS876819_Hurate measurement QTL GWAS876819 (human)3e-111urate measurementblood uric acid level (CMO:0000501)499253439925344Human
597206545GWAS1302619_Huric acid measurement QTL GWAS1302619 (human)2e-42uric acid measurementblood uric acid level (CMO:0000501)499988779998878Human
597206547GWAS1302621_Huric acid measurement QTL GWAS1302621 (human)5e-17uric acid measurementblood uric acid level (CMO:0000501)499398109939811Human
597091869GWAS1187943_Hgout QTL GWAS1187943 (human)6e-27gout499935589993559Human
597231637GWAS1327711_Hgout QTL GWAS1327711 (human)4e-157gout499253439925344Human
407048141GWAS697117_Huric acid measurement QTL GWAS697117 (human)0.0000009uric acid measurementblood uric acid level (CMO:0000501)499205439920544Human
597101063GWAS1197137_Huric acid measurement QTL GWAS1197137 (human)2e-44uric acid measurementblood uric acid level (CMO:0000501)499993239999324Human
597040643GWAS1136717_Hgout QTL GWAS1136717 (human)8e-22gout499935589993559Human
597510660GWAS1606734_Hfacial width measurement QTL GWAS1606734 (human)0.000005facial morphology trait (VT:0003743)498082359808236Human
597425666GWAS1521740_Hgout QTL GWAS1521740 (human)8e-775gout499308559930856Human
597111309GWAS1207383_Hurate measurement QTL GWAS1207383 (human)2e-297urate measurementblood uric acid level (CMO:0000501)499936169993617Human
407028697GWAS677673_Huric acid measurement QTL GWAS677673 (human)3e-12uric acid measurementblood uric acid level (CMO:0000501)499925919992592Human
407028700GWAS677676_Huric acid measurement QTL GWAS677676 (human)0.0000002uric acid measurementblood uric acid level (CMO:0000501)499925919992592Human
597101064GWAS1197138_Huric acid measurement QTL GWAS1197138 (human)3e-35uric acid measurementblood uric acid level (CMO:0000501)499259969925997Human
597207047GWAS1303121_Hurate measurement QTL GWAS1303121 (human)4e-199urate measurementblood uric acid level (CMO:0000501)499837529983753Human
406968810GWAS617786_Hgout QTL GWAS617786 (human)7e-26gout41000023710000238Human
597426734GWAS1522808_Hgout QTL GWAS1522808 (human)8e-968gout499398109939811Human
406968823GWAS617799_Hgout QTL GWAS617799 (human)9e-25gout41000023710000238Human
596987437GWAS1106956_Huric acid measurement QTL GWAS1106956 (human)6e-496uric acid measurement499936329993633Human
597257254GWAS1353328_Hurate measurement QTL GWAS1353328 (human)3e-187urate measurementblood uric acid level (CMO:0000501)499912389991239Human
407228804GWAS877780_Hurate measurement QTL GWAS877780 (human)6e-62urate measurementblood uric acid level (CMO:0000501)499839729983973Human
407020932GWAS669908_Huric acid measurement QTL GWAS669908 (human)1e-09uric acid measurementblood uric acid level (CMO:0000501)499253439925344Human
407092619GWAS741595_Hgout, hyperuricemia QTL GWAS741595 (human)2e-09gout, hyperuricemia41000023710000238Human
597450319GWAS1546393_Hurate measurement QTL GWAS1546393 (human)3e-15urate measurementblood uric acid level (CMO:0000501)498060089806009Human
597118530GWAS1214604_Hurate measurement QTL GWAS1214604 (human)2e-10urate measurementblood uric acid level (CMO:0000501)499857319985732Human
597118529GWAS1214603_Hurate measurement QTL GWAS1214603 (human)8e-12urate measurementblood uric acid level (CMO:0000501)499419879941988Human
597118528GWAS1214602_Hurate measurement QTL GWAS1214602 (human)2e-25urate measurementblood uric acid level (CMO:0000501)499203899920390Human
597206595GWAS1302669_Huric acid measurement QTL GWAS1302669 (human)1e-17uric acid measurementblood uric acid level (CMO:0000501)499141179914118Human
597206596GWAS1302670_Huric acid measurement QTL GWAS1302670 (human)8e-64uric acid measurementblood uric acid level (CMO:0000501)499935589993559Human
597270087GWAS1366161_Hmetabolite measurement QTL GWAS1366161 (human)1e-12metabolite measurement499195589919560Human
597270086GWAS1366160_Hmetabolite measurement QTL GWAS1366160 (human)2e-12metabolite measurement499195589919560Human
597306949GWAS1403023_Huric acid measurement QTL GWAS1403023 (human)2e-3949uric acid measurementblood uric acid level (CMO:0000501)499262709926271Human
407052195GWAS701171_Hmetabolite measurement QTL GWAS701171 (human)6e-34metabolite measurement499544559954456Human
597383290GWAS1479364_Huric acid measurement QTL GWAS1479364 (human)2e-27uric acid measurementblood uric acid level (CMO:0000501)499956799995680Human
597256821GWAS1352895_Hurate measurement QTL GWAS1352895 (human)7e-66urate measurementblood uric acid level (CMO:0000501)498708329870833Human
597256813GWAS1352887_Hurate measurement QTL GWAS1352887 (human)2e-103urate measurementblood uric acid level (CMO:0000501)499205469920547Human
597608040GWAS1664900_Hdrug use measurement, gout QTL GWAS1664900 (human)4e-18drug use measurement, gout499187239918724Human
407025076GWAS674052_Hurate measurement QTL GWAS674052 (human)3e-70urate measurementblood uric acid level (CMO:0000501)499647569964757Human
597137504GWAS1233578_Horal microbiome measurement QTL GWAS1233578 (human)1e-10mouth morphology trait (VT:0000452)499968169996817Human
407227835GWAS876811_Hurate measurement QTL GWAS876811 (human)3e-92urate measurementblood uric acid level (CMO:0000501)499839729983973Human

Markers in Region
D4S1268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,029,129 - 10,029,326UniSTSGRCh37
Build 3649,638,227 - 9,638,424RGDNCBI36
Celera410,511,485 - 10,511,682RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,362,842 - 9,363,039UniSTS
TNG Radiation Hybrid Map46484.0UniSTS
G41975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,953,610 - 9,953,958UniSTSGRCh37
Build 3649,562,708 - 9,563,056RGDNCBI36
Celera410,436,280 - 10,436,628RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,287,762 - 9,288,110UniSTS
TNG Radiation Hybrid Map46530.0UniSTS
G33346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,917,467 - 9,917,678UniSTSGRCh37
Build 3649,526,565 - 9,526,776RGDNCBI36
Celera410,400,335 - 10,400,546RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,251,688 - 9,251,899UniSTS
SHGC-148773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,869,162 - 9,869,478UniSTSGRCh37
Build 3649,478,260 - 9,478,576RGDNCBI36
Celera410,352,031 - 10,352,347RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,203,585 - 9,203,901UniSTS
TNG Radiation Hybrid Map46569.0UniSTS
SHGC-148774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,869,483 - 9,869,826UniSTSGRCh37
Build 3649,478,581 - 9,478,924RGDNCBI36
Celera410,352,352 - 10,352,695RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,203,906 - 9,204,249UniSTS
TNG Radiation Hybrid Map46569.0UniSTS
D4S1251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,016,184 - 10,016,352UniSTSGRCh37
Build 3649,625,282 - 9,625,450RGDNCBI36
Celera410,498,547 - 10,498,715RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,349,877 - 9,350,045UniSTS
SHGC-51391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,914,704 - 9,915,047UniSTSGRCh37
Build 3649,523,802 - 9,524,145RGDNCBI36
Celera410,397,576 - 10,397,915RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,248,925 - 9,249,268UniSTS
TNG Radiation Hybrid Map46551.0UniSTS
D4S317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,917,458 - 9,917,770UniSTSGRCh37
Build 3649,526,556 - 9,526,868RGDNCBI36
Celera410,400,326 - 10,400,638RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,251,679 - 9,251,991UniSTS
SHGC-154066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,868,281 - 9,868,601UniSTSGRCh37
Build 3649,477,379 - 9,477,699RGDNCBI36
Celera410,351,150 - 10,351,470RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,202,704 - 9,203,024UniSTS
TNG Radiation Hybrid Map46569.0UniSTS
SHGC-50921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,016,191 - 10,016,418UniSTSGRCh37
Build 3649,625,289 - 9,625,516RGDNCBI36
Celera410,498,554 - 10,498,781RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,349,884 - 9,350,111UniSTS
TNG Radiation Hybrid Map46501.0UniSTS
stb751l19.p1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,884,652 - 9,884,950UniSTSGRCh37
Build 3649,493,750 - 9,494,048RGDNCBI36
Celera410,367,525 - 10,367,823RGD
HuRef49,219,068 - 9,219,368UniSTS
stbA448G15.ca2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,888,009 - 9,888,217UniSTSGRCh37
Build 3649,497,107 - 9,497,315RGDNCBI36
Celera410,370,883 - 10,371,087RGD
HuRef49,222,230 - 9,222,434UniSTS
SHGC-51591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,040,186 - 10,040,363UniSTSGRCh37
Build 3649,649,284 - 9,649,461RGDNCBI36
Celera410,522,536 - 10,522,713RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,373,882 - 9,374,059UniSTS
TNG Radiation Hybrid Map46497.0UniSTS
D4S615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,914,831 - 9,915,076UniSTSGRCh37
Build 3649,523,929 - 9,524,174RGDNCBI36
Celera410,397,703 - 10,397,944RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,249,052 - 9,249,297UniSTS
SHGC-25155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,025,408 - 10,025,547UniSTSGRCh37
Build 3649,634,506 - 9,634,645RGDNCBI36
Celera410,507,764 - 10,507,903RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,359,121 - 9,359,260UniSTS
TNG Radiation Hybrid Map46484.0UniSTS
RH36271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,984,202 - 9,984,307UniSTSGRCh37
Build 3649,593,300 - 9,593,405RGDNCBI36
Celera410,466,561 - 10,466,666RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,317,170 - 9,317,275UniSTS
GeneMap99-GB4 RH Map461.85UniSTS
NCBI RH Map4114.8UniSTS
SHGC-59716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,880,700 - 9,880,875UniSTSGRCh37
Build 3649,489,798 - 9,489,973RGDNCBI36
Celera410,363,573 - 10,363,748RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,215,116 - 9,215,291UniSTS
GeneMap99-GB4 RH Map461.22UniSTS
NCBI RH Map4112.9UniSTS
L18084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,037,657 - 10,037,841UniSTSGRCh37
Build 3649,646,755 - 9,646,939RGDNCBI36
Celera410,520,006 - 10,520,190RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,371,353 - 9,371,537UniSTS
D4S634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,040,200 - 10,040,373UniSTSGRCh37
Build 3649,649,298 - 9,649,471RGDNCBI36
Celera410,522,550 - 10,522,723RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,373,896 - 9,374,069UniSTS
D4S1365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,033,189 - 10,033,423UniSTSGRCh37
Build 3649,642,287 - 9,642,521RGDNCBI36
Celera410,515,538 - 10,515,772RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,366,885 - 9,367,119UniSTS
G65185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,011,599 - 10,011,708UniSTSGRCh37
Build 3649,620,697 - 9,620,806RGDNCBI36
Celera410,493,962 - 10,494,071RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,345,292 - 9,345,401UniSTS
G65186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,996,713 - 9,996,844UniSTSGRCh37
Build 3649,605,811 - 9,605,942RGDNCBI36
Celera410,479,072 - 10,479,203RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,330,398 - 9,330,529UniSTS
G65187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,011,235 - 10,011,345UniSTSGRCh37
Build 3649,620,333 - 9,620,443RGDNCBI36
Celera410,493,598 - 10,493,708RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,344,928 - 9,345,038UniSTS
G65145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,838,625 - 9,838,744UniSTSGRCh37
Build 3649,447,723 - 9,447,842RGDNCBI36
Celera410,321,492 - 10,321,611RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,173,046 - 9,173,165UniSTS
G65164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,839,176 - 9,839,276UniSTSGRCh37
Build 3649,448,274 - 9,448,374RGDNCBI36
Celera410,322,043 - 10,322,143RGD
Cytogenetic Map4p16.1UniSTS
HuRef49,173,597 - 9,173,697UniSTS
SLC2A9_2838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3749,827,815 - 9,828,323UniSTSGRCh37
Build 3649,436,913 - 9,437,421RGDNCBI36
Celera410,310,681 - 10,311,189RGD
HuRef49,162,236 - 9,162,744UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2418 2788 2233 4829 1715 2309 3 617 1885 458 2183 7207 6399 27 3668 846 1716 1581 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_925341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF210317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF421859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL572022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI821650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD629819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD629822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ786220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264784   ⟹   ENSP00000264784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,826,224 - 10,021,497 (-)Ensembl
Ensembl Acc Id: ENST00000309065   ⟹   ENSP00000311383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,826,226 - 10,040,248 (-)Ensembl
Ensembl Acc Id: ENST00000481042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl410,034,225 - 10,040,388 (-)Ensembl
Ensembl Acc Id: ENST00000503280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,799,078 - 9,908,345 (-)Ensembl
Ensembl Acc Id: ENST00000503803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,779,807 - 9,887,642 (-)Ensembl
Ensembl Acc Id: ENST00000505104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,880,206 - 10,040,210 (-)Ensembl
Ensembl Acc Id: ENST00000505506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,995,669 - 10,019,075 (-)Ensembl
Ensembl Acc Id: ENST00000506583   ⟹   ENSP00000422209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,826,224 - 10,054,875 (-)Ensembl
Ensembl Acc Id: ENST00000506839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,985,668 - 10,019,294 (-)Ensembl
Ensembl Acc Id: ENST00000508585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,771,153 - 9,826,600 (-)Ensembl
Ensembl Acc Id: ENST00000509214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl410,025,724 - 10,029,300 (-)Ensembl
Ensembl Acc Id: ENST00000512342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,798,660 - 9,887,642 (-)Ensembl
Ensembl Acc Id: ENST00000513129   ⟹   ENSP00000426800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,980,592 - 10,054,936 (-)Ensembl
RefSeq Acc Id: NM_001001290   ⟹   NP_001001290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,826,224 - 10,040,270 (-)NCBI
GRCh3749,827,848 - 10,041,872 (-)NCBI
Build 3649,436,946 - 9,650,970 (-)NCBI Archive
HuRef49,162,269 - 9,375,568 (-)ENTREZGENE
CHM1_149,825,801 - 10,040,024 (-)NCBI
T2T-CHM13v2.049,826,017 - 10,039,839 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020041   ⟹   NP_064425
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,826,224 - 10,021,497 (-)NCBI
GRCh3749,827,848 - 10,041,872 (-)ENTREZGENE
Build 3649,436,946 - 9,632,212 (-)NCBI Archive
HuRef49,162,269 - 9,375,568 (-)ENTREZGENE
CHM1_149,825,801 - 10,021,280 (-)NCBI
T2T-CHM13v2.049,826,017 - 10,021,071 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713968   ⟹   XP_006714031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,773,753 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513856   ⟹   XP_011512158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,771,125 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513858   ⟹   XP_011512160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,771,125 - 10,029,115 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513859   ⟹   XP_011512161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,797,780 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513860   ⟹   XP_011512162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,797,780 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513861   ⟹   XP_011512163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,797,780 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513864   ⟹   XP_011512166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,771,125 - 9,993,028 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513865   ⟹   XP_011512167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,868,777 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513866   ⟹   XP_011512168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,868,777 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513867   ⟹   XP_011512169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,771,025 - 9,985,634 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008457   ⟹   XP_016863946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,771,125 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008458   ⟹   XP_016863947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,797,780 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008459   ⟹   XP_016863948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,771,125 - 9,993,256 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008460   ⟹   XP_016863949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,797,780 - 10,021,258 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454151   ⟹   XP_024309919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,771,125 - 10,021,264 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454152   ⟹   XP_024309920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,884,390 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454153   ⟹   XP_024309921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,880,728 - 10,021,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047415973   ⟹   XP_047271929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,771,125 - 10,029,115 (-)NCBI
RefSeq Acc Id: XM_047415974   ⟹   XP_047271930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,773,753 - 10,021,497 (-)NCBI
RefSeq Acc Id: XM_047415975   ⟹   XP_047271931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,826,224 - 10,029,115 (-)NCBI
RefSeq Acc Id: XM_047415976   ⟹   XP_047271932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,771,125 - 10,021,265 (-)NCBI
RefSeq Acc Id: XM_047415977   ⟹   XP_047271933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,773,753 - 10,021,259 (-)NCBI
RefSeq Acc Id: XM_047415978   ⟹   XP_047271934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,797,780 - 9,993,256 (-)NCBI
RefSeq Acc Id: XM_047415979   ⟹   XP_047271935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,834,881 - 10,021,497 (-)NCBI
RefSeq Acc Id: XM_047415980   ⟹   XP_047271936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,868,777 - 10,021,258 (-)NCBI
RefSeq Acc Id: XM_054350512   ⟹   XP_054206487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,770,909 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350513   ⟹   XP_054206488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,770,909 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350514   ⟹   XP_054206489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,770,909 - 10,028,873 (-)NCBI
RefSeq Acc Id: XM_054350515   ⟹   XP_054206490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,770,909 - 10,028,692 (-)NCBI
RefSeq Acc Id: XM_054350516   ⟹   XP_054206491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,779,580 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350517   ⟹   XP_054206492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,779,580 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350518   ⟹   XP_054206493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,797,562 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350519   ⟹   XP_054206494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,797,562 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350520   ⟹   XP_054206495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,826,017 - 10,028,691 (-)NCBI
RefSeq Acc Id: XM_054350521   ⟹   XP_054206496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,797,562 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350522   ⟹   XP_054206497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,797,562 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350523   ⟹   XP_054206498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,770,909 - 10,020,838 (-)NCBI
RefSeq Acc Id: XM_054350524   ⟹   XP_054206499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,770,909 - 10,020,839 (-)NCBI
RefSeq Acc Id: XM_054350525   ⟹   XP_054206500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,770,909 - 9,992,592 (-)NCBI
RefSeq Acc Id: XM_054350526   ⟹   XP_054206501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,884,183 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350527   ⟹   XP_054206502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,770,909 - 9,992,820 (-)NCBI
RefSeq Acc Id: XM_054350528   ⟹   XP_054206503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,868,574 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350529   ⟹   XP_054206504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,868,574 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350530   ⟹   XP_054206505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,880,518 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350531   ⟹   XP_054206506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,779,580 - 10,020,833 (-)NCBI
RefSeq Acc Id: XM_054350532   ⟹   XP_054206507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,770,809 - 9,985,198 (-)NCBI
RefSeq Acc Id: XM_054350533   ⟹   XP_054206508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,868,574 - 10,039,839 (-)NCBI
RefSeq Acc Id: XM_054350534   ⟹   XP_054206509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,797,562 - 10,020,832 (-)NCBI
RefSeq Acc Id: XM_054350535   ⟹   XP_054206510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,797,562 - 9,992,820 (-)NCBI
RefSeq Acc Id: XM_054350536   ⟹   XP_054206511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,834,675 - 10,021,071 (-)NCBI
RefSeq Acc Id: XM_054350537   ⟹   XP_054206512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.049,868,574 - 10,020,832 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001001290 (Get FASTA)   NCBI Sequence Viewer  
  NP_064425 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714031 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512158 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512160 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512161 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512162 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512163 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512166 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512167 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512168 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512169 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863946 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863947 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863948 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863949 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309919 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309920 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309921 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271930 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271931 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271932 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271933 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271934 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271935 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271936 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206487 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206488 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206489 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206490 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206491 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206492 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206493 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206494 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206495 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206496 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206497 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206498 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206499 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206500 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206501 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206502 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206503 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206504 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206505 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206506 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206507 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206508 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206509 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206510 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206511 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206512 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF85942 (Get FASTA)   NCBI Sequence Viewer  
  AAH18897 (Get FASTA)   NCBI Sequence Viewer  
  AAI10415 (Get FASTA)   NCBI Sequence Viewer  
  AAL16939 (Get FASTA)   NCBI Sequence Viewer  
  AAY41052 (Get FASTA)   NCBI Sequence Viewer  
  EAW92681 (Get FASTA)   NCBI Sequence Viewer  
  EAW92682 (Get FASTA)   NCBI Sequence Viewer  
  EAW92683 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264784
  ENSP00000264784.3
  ENSP00000311383
  ENSP00000311383.3
  ENSP00000422209.1
GenBank Protein Q9NRM0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001001290   ⟸   NM_001001290
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_064425   ⟸   NM_020041
- Peptide Label: isoform 1
- UniProtKB: Q8WV30 (UniProtKB/Swiss-Prot),   Q4W5D1 (UniProtKB/Swiss-Prot),   Q0VGC4 (UniProtKB/Swiss-Prot),   Q96P00 (UniProtKB/Swiss-Prot),   Q9NRM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006714031   ⟸   XM_006713968
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011512160   ⟸   XM_011513858
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011512158   ⟸   XM_011513856
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011512166   ⟸   XM_011513864
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_011512169   ⟸   XM_011513867
- Peptide Label: isoform X21
- Sequence:
RefSeq Acc Id: XP_011512163   ⟸   XM_011513861
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011512162   ⟸   XM_011513860
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011512161   ⟸   XM_011513859
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011512167   ⟸   XM_011513865
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011512168   ⟸   XM_011513866
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_016863946   ⟸   XM_017008457
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016863948   ⟸   XM_017008459
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_016863947   ⟸   XM_017008458
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016863949   ⟸   XM_017008460
- Peptide Label: isoform X22
- Sequence:
RefSeq Acc Id: XP_024309919   ⟸   XM_024454151
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_024309921   ⟸   XM_024454153
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_024309920   ⟸   XM_024454152
- Peptide Label: isoform X15
- Sequence:
Ensembl Acc Id: ENSP00000311383   ⟸   ENST00000309065
Ensembl Acc Id: ENSP00000422209   ⟸   ENST00000506583
Ensembl Acc Id: ENSP00000426800   ⟸   ENST00000513129
Ensembl Acc Id: ENSP00000264784   ⟸   ENST00000264784
RefSeq Acc Id: XP_047271929   ⟸   XM_047415973
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047271932   ⟸   XM_047415976
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047271930   ⟸   XM_047415974
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047271933   ⟸   XM_047415977
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047271934   ⟸   XM_047415978
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047271931   ⟸   XM_047415975
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047271935   ⟸   XM_047415979
- Peptide Label: isoform X24
RefSeq Acc Id: XP_047271936   ⟸   XM_047415980
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054206507   ⟸   XM_054350532
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054206489   ⟸   XM_054350514
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054206490   ⟸   XM_054350515
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054206487   ⟸   XM_054350512
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054206488   ⟸   XM_054350513
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206499   ⟸   XM_054350524
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054206498   ⟸   XM_054350523
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054206502   ⟸   XM_054350527
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054206500   ⟸   XM_054350525
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054206492   ⟸   XM_054350517
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054206491   ⟸   XM_054350516
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054206506   ⟸   XM_054350531
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054206497   ⟸   XM_054350522
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054206496   ⟸   XM_054350521
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054206494   ⟸   XM_054350519
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054206493   ⟸   XM_054350518
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054206509   ⟸   XM_054350534
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054206510   ⟸   XM_054350535
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054206495   ⟸   XM_054350520
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054206511   ⟸   XM_054350536
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054206508   ⟸   XM_054350533
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054206503   ⟸   XM_054350528
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054206504   ⟸   XM_054350529
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054206512   ⟸   XM_054350537
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054206505   ⟸   XM_054350530
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054206501   ⟸   XM_054350526
- Peptide Label: isoform X15
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRM0-F1-model_v2 AlphaFold Q9NRM0 1-540 view protein structure

Promoters
RGD ID:6812614
Promoter ID:HG_ACW:58324
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:SLC2A9.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3649,629,601 - 9,630,101 (-)MPROMDB
RGD ID:6802610
Promoter ID:HG_KWN:47866
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_020041
Position:
Human AssemblyChrPosition (strand)Source
Build 3649,631,951 - 9,632,451 (-)MPROMDB
RGD ID:6867032
Promoter ID:EPDNEW_H6681
Type:initiation region
Name:SLC2A9_1
Description:solute carrier family 2 member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6682  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38410,021,497 - 10,021,557EPDNEW
RGD ID:6867034
Promoter ID:EPDNEW_H6682
Type:initiation region
Name:SLC2A9_2
Description:solute carrier family 2 member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6681  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38410,040,270 - 10,040,330EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13446 AgrOrtholog
COSMIC SLC2A9 COSMIC
Ensembl Genes ENSG00000109667 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000264784 ENTREZGENE
  ENST00000264784.8 UniProtKB/Swiss-Prot
  ENST00000309065 ENTREZGENE
  ENST00000309065.7 UniProtKB/Swiss-Prot
  ENST00000506583.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot
GTEx ENSG00000109667 GTEx
HGNC ID HGNC:13446 ENTREZGENE
Human Proteome Map SLC2A9 Human Proteome Map
InterPro GLUT UniProtKB/Swiss-Prot
  MFS_dom UniProtKB/Swiss-Prot
  MFS_sugar_transport-like UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot
  Sugar/inositol_transpt UniProtKB/Swiss-Prot
  Sugar_transporter_CS UniProtKB/Swiss-Prot
KEGG Report hsa:56606 UniProtKB/Swiss-Prot
NCBI Gene 56606 ENTREZGENE
OMIM 606142 OMIM
PANTHER PTHR23503 UniProtKB/Swiss-Prot
  SOLUTE CARRIER FAMILY 2, FACILITATED GLUCOSE TRANSPORTER MEMBER 9 UniProtKB/Swiss-Prot
Pfam Sugar_tr UniProtKB/Swiss-Prot
PharmGKB PA37771 PharmGKB
PRINTS SUGRTRNSPORT UniProtKB/Swiss-Prot
PROSITE MFS UniProtKB/Swiss-Prot
  SUGAR_TRANSPORT_1 UniProtKB/Swiss-Prot
  SUGAR_TRANSPORT_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot
UniProt D6REK5_HUMAN UniProtKB/TrEMBL
  GTR9_HUMAN UniProtKB/Swiss-Prot
  Q0VGC4 ENTREZGENE
  Q4W5D1 ENTREZGENE
  Q8WV30 ENTREZGENE
  Q96P00 ENTREZGENE
  Q9NRM0 ENTREZGENE
UniProt Secondary Q0VGC4 UniProtKB/Swiss-Prot
  Q4W5D1 UniProtKB/Swiss-Prot
  Q8WV30 UniProtKB/Swiss-Prot
  Q96P00 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC2A9  solute carrier family 2 member 9  SLC2A9  solute carrier family 2 (facilitated glucose transporter), member 9  Symbol and/or name change 5135510 APPROVED