SLC5A2 (solute carrier family 5 member 2) - Rat Genome Database

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Gene: SLC5A2 (solute carrier family 5 member 2) Homo sapiens
Analyze
Symbol: SLC5A2
Name: solute carrier family 5 member 2
RGD ID: 731434
HGNC Page HGNC:11037
Description: Enables D-glucose:sodium symporter activity and alpha-glucoside transmembrane transporter activity. Involved in D-glucose import across plasma membrane; alpha-glucoside transport; and sodium ion import across plasma membrane. Located in plasma membrane. Implicated in familial renal glucosuria and renal glycosuria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glycosuria 1, renal; GLYS1; low affinity na-dependent glucose transporter (sglt2); low affinity sodium-glucose cotransporter; Na(+)/glucose cotransporter 2; SGLT2; sodium/glucose cotransporter 2; solute carrier family 5 (sodium/glucose cotransporter), member 2; solute carrier family 5 (sodium/glucose transporter), member 2
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
GRCh381631,483,123 - 31,490,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,483,002 - 31,490,860 (+)EnsemblGRCh38hg38GRCh38
GRCh371631,494,444 - 31,502,090 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,401,940 - 31,409,590 (+)NCBINCBI36Build 36hg18NCBI36
Build 341631,401,939 - 31,409,590NCBI
Celera1628,806,298 - 28,813,953 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1629,054,639 - 29,062,297 (+)NCBIHuRef
CHM1_11632,813,088 - 32,820,740 (+)NCBICHM1_1
T2T-CHM13v2.01631,870,510 - 31,878,162 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Angiotensin II-dependent increased expression of Na+-glucose cotransporter in hypertension. Bautista R, etal., Am J Physiol Renal Physiol. 2004 Jan;286(1):F127-33. Epub 2003 Sep 23.
2. The cellular fate of glucose and its relevance in type 2 diabetes. Bouche C, etal., Endocr Rev. 2004 Oct;25(5):807-30.
3. Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. Calado J, etal., Hum Genet. 2004 Feb;114(3):314-6. Epub 2003 Nov 12.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. The glucose transporter families SGLT and GLUT: molecular basis of normal and aberrant function. Scheepers A, etal., JPEN J Parenter Enteral Nutr. 2004 Sep-Oct;28(5):364-71.
10. Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). van den Heuvel LP, etal., Hum Genet 2002 Dec;111(6):544-7. Epub 2002 Sep 27.
Additional References at PubMed
PMID:1415574   PMID:GLYS1   PMID:8244402   PMID:11133510   PMID:12477932   PMID:14569097   PMID:14702039   PMID:15610225   PMID:17505558   PMID:18622023   PMID:19056867   PMID:20965718  
PMID:20980548   PMID:21048164   PMID:21165652   PMID:21410690   PMID:21830867   PMID:21873635   PMID:22079028   PMID:22314875   PMID:22528597   PMID:22673616   PMID:23376485   PMID:23508966  
PMID:23617452   PMID:23651029   PMID:23714218   PMID:25110280   PMID:25339128   PMID:25345427   PMID:25894829   PMID:26170283   PMID:26186194   PMID:26260238   PMID:26362302   PMID:26376857  
PMID:26403227   PMID:26735923   PMID:26861783   PMID:27038414   PMID:27085074   PMID:27127999   PMID:27136908   PMID:27754601   PMID:28134748   PMID:28324025   PMID:28365451   PMID:28387957  
PMID:28398306   PMID:28399981   PMID:28419670   PMID:28472182   PMID:28477418   PMID:28506519   PMID:28514442   PMID:28592437   PMID:28931009   PMID:29061576   PMID:29205334   PMID:29676528  
PMID:29959222   PMID:30067203   PMID:30076706   PMID:30089592   PMID:30132032   PMID:30156268   PMID:30365049   PMID:30429355   PMID:30593819   PMID:30948266   PMID:30988077   PMID:31545924  
PMID:31584752   PMID:31586073   PMID:31721613   PMID:31776304   PMID:31936266   PMID:32034166   PMID:32068116   PMID:32111189   PMID:32194159   PMID:32227112   PMID:32488949   PMID:32617672  
PMID:32684737   PMID:32896668   PMID:32998746   PMID:33405238   PMID:33961781   PMID:34070765   PMID:34205045   PMID:34314754   PMID:34321571   PMID:34360742   PMID:34380181   PMID:34540994  
PMID:34575958   PMID:34781282   PMID:34880493   PMID:34942623   PMID:35615399   PMID:36096423   PMID:36131166   PMID:36465606   PMID:36586092   PMID:36724073   PMID:36896928   PMID:37062642  
PMID:37160967   PMID:37202870   PMID:37277060   PMID:37349938   PMID:37436694   PMID:37550217   PMID:37797691   PMID:37819499   PMID:37980217   PMID:38057552   PMID:38069385   PMID:38171209  
PMID:38247224   PMID:38488029   PMID:38523292   PMID:38747277  


Genomics

Comparative Map Data
SLC5A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,483,123 - 31,490,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,483,002 - 31,490,860 (+)EnsemblGRCh38hg38GRCh38
GRCh371631,494,444 - 31,502,090 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,401,940 - 31,409,590 (+)NCBINCBI36Build 36hg18NCBI36
Build 341631,401,939 - 31,409,590NCBI
Celera1628,806,298 - 28,813,953 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1629,054,639 - 29,062,297 (+)NCBIHuRef
CHM1_11632,813,088 - 32,820,740 (+)NCBICHM1_1
T2T-CHM13v2.01631,870,510 - 31,878,162 (+)NCBIT2T-CHM13v2.0
Slc5a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,864,855 - 127,871,602 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7127,864,829 - 127,871,602 (+)EnsemblGRCm39 Ensembl
GRCm387128,265,683 - 128,272,430 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7128,265,657 - 128,272,430 (+)EnsemblGRCm38mm10GRCm38
MGSCv377135,409,211 - 135,415,947 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367128,056,845 - 128,063,581 (+)NCBIMGSCv36mm8
Celera7128,101,772 - 128,108,508 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map770.08NCBI
Slc5a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81192,277,621 - 192,283,742 (+)NCBIGRCr8
mRatBN7.21182,847,185 - 182,853,309 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,847,106 - 182,853,306 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1191,197,664 - 191,203,785 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01198,383,752 - 198,389,873 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01191,053,939 - 191,060,060 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01199,682,688 - 199,688,809 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1199,682,688 - 199,688,809 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01206,728,635 - 206,734,756 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41187,523,230 - 187,529,351 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11187,673,110 - 187,679,232 (+)NCBI
Celera1180,493,106 - 180,499,226 (+)NCBICelera
Cytogenetic Map1q37NCBI
Slc5a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554938,322,597 - 8,329,646 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554938,322,972 - 8,329,886 (+)NCBIChiLan1.0ChiLan1.0
SLC5A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21834,692,678 - 34,699,920 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11639,494,547 - 39,501,343 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01623,474,992 - 23,482,603 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11631,853,610 - 31,861,261 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,853,602 - 31,861,261 (+)Ensemblpanpan1.1panPan2
SLC5A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1616,765,935 - 16,772,145 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl616,765,938 - 16,772,137 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha618,393,645 - 18,399,844 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0616,890,717 - 16,896,969 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl616,890,717 - 16,905,803 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1616,694,325 - 16,700,565 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0616,614,024 - 16,620,201 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0616,925,700 - 16,931,900 (-)NCBIUU_Cfam_GSD_1.0
Slc5a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344125,693,244 - 125,699,926 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365438,336,873 - 8,343,322 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365438,336,884 - 8,343,322 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC5A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,081,141 - 17,089,568 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,081,138 - 17,089,422 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,348,680 - 17,354,123 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC5A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1528,183,141 - 28,191,352 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl528,183,618 - 28,191,120 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660681,248,831 - 1,257,049 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc5a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478214,483,822 - 14,490,841 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478214,484,532 - 14,490,598 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC5A2
185 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003041.4(SLC5A2):c.127-16C>A single nucleotide variant Familial renal glucosuria [RCV000022761] Chr16:31484657 [GRCh38]
Chr16:31495978 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu) single nucleotide variant Familial renal glucosuria [RCV000022763] Chr16:31484914 [GRCh38]
Chr16:31496235 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter) single nucleotide variant Familial renal glucosuria [RCV000013767] Chr16:31488919 [GRCh38]
Chr16:31500240 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) single nucleotide variant Familial renal glucosuria [RCV000013768]|SLC5A2-related disorder [RCV003914837]|not provided [RCV001512825]|not specified [RCV002247333] Chr16:31490477 [GRCh38]
Chr16:31501798 [GRCh37]
Chr16:16p11.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003041.4(SLC5A2):c.500del (p.Gln167fs) deletion Familial renal glucosuria [RCV000013769]|SLC5A2-related disorder [RCV003407325]|not provided [RCV004719644] Chr16:31486201 [GRCh38]
Chr16:31497522 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_003041.4(SLC5A2):c.175_184del (p.Gly59fs) deletion not provided [RCV000722829] Chr16:31484718..31484727 [GRCh38]
Chr16:31496039..31496048 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1552_1573dup (p.His525fs) duplication not provided [RCV000722477] Chr16:31489216..31489217 [GRCh38]
Chr16:31500537..31500538 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.187del (p.Val63fs) deletion not provided [RCV000722736] Chr16:31484732 [GRCh38]
Chr16:31496053 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.395G>A (p.Arg132His) single nucleotide variant Familial renal glucosuria [RCV003137648]|Malignant tumor of prostate [RCV000149141]|SLC5A2-related disorder [RCV003398793] Chr16:31485820 [GRCh38]
Chr16:31497141 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 copy number gain See cases [RCV000133811] Chr16:30691912..36160463 [GRCh38]
Chr16:30703233..35147508 [GRCh37]
Chr16:30610734..35005009 [NCBI36]
Chr16:16p11.2-11.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207245] Chr16:31154186..31926800 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_003041.4(SLC5A2):c.265G>A (p.Ala89Thr) single nucleotide variant Familial renal glucosuria [RCV000239563] Chr16:31484885 [GRCh38]
Chr16:31496206 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_003041.4(SLC5A2):c.469-3A>T single nucleotide variant Familial renal glucosuria [RCV000282933] Chr16:31486167 [GRCh38]
Chr16:31497488 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala) single nucleotide variant Familial renal glucosuria [RCV000282592] Chr16:31488622 [GRCh38]
Chr16:31499943 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val) single nucleotide variant Familial renal glucosuria [RCV000267191]|Inborn genetic diseases [RCV002521012] Chr16:31489276 [GRCh38]
Chr16:31500597 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_003041.4(SLC5A2):c.*63G>A single nucleotide variant Familial renal glucosuria [RCV000304349]|not provided [RCV004715073] Chr16:31490598 [GRCh38]
Chr16:31501919 [GRCh37]
Chr16:16p11.2		 benign|uncertain significance
NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser) single nucleotide variant Familial renal glucosuria [RCV000279242] Chr16:31490360 [GRCh38]
Chr16:31501681 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=) single nucleotide variant Familial renal glucosuria [RCV000280556] Chr16:31490157 [GRCh38]
Chr16:31501478 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1450-14T>C single nucleotide variant Familial renal glucosuria [RCV000365492] Chr16:31489109 [GRCh38]
Chr16:31500430 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr) single nucleotide variant Familial renal glucosuria [RCV000391734] Chr16:31490498 [GRCh38]
Chr16:31501819 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1626C>G (p.Leu542=) single nucleotide variant Familial renal glucosuria [RCV000324812]|not provided [RCV000957410] Chr16:31489299 [GRCh38]
Chr16:31500620 [GRCh37]
Chr16:16p11.2		 benign|uncertain significance
NM_003041.4(SLC5A2):c.1455C>T (p.Ala485=) single nucleotide variant Familial renal glucosuria [RCV000325968] Chr16:31489128 [GRCh38]
Chr16:31500449 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val) single nucleotide variant Familial renal glucosuria [RCV000371333]|not provided [RCV000960462] Chr16:31488896 [GRCh38]
Chr16:31500217 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala) single nucleotide variant Familial renal glucosuria [RCV000349603] Chr16:31490411 [GRCh38]
Chr16:31501732 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr) single nucleotide variant Familial renal glucosuria [RCV000399105] Chr16:31488637 [GRCh38]
Chr16:31488637..31488638 [GRCh38]
Chr16:31499958 [GRCh37]
Chr16:31499958..31499959 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1450-4G>A single nucleotide variant Familial renal glucosuria [RCV000273215] Chr16:31489119 [GRCh38]
Chr16:31500440 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu) single nucleotide variant Familial renal glucosuria [RCV000350843] Chr16:31490393 [GRCh38]
Chr16:31501714 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu) single nucleotide variant Familial renal glucosuria [RCV000400078]|Inborn genetic diseases [RCV002522843]|not provided [RCV003480598] Chr16:31487578 [GRCh38]
Chr16:31498899 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=) single nucleotide variant Familial renal glucosuria [RCV000400868] Chr16:31490418 [GRCh38]
Chr16:31501739 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=) single nucleotide variant Familial renal glucosuria [RCV000376982]|not provided [RCV004567861] Chr16:31490130 [GRCh38]
Chr16:31501451 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_003041.4(SLC5A2):c.1885A>G (p.Thr629Ala) single nucleotide variant Familial renal glucosuria [RCV000401664]|not provided [RCV000957411] Chr16:31490401 [GRCh38]
Chr16:31501722 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=) single nucleotide variant Familial renal glucosuria [RCV000310034]|SLC5A2-related disorder [RCV003957651] Chr16:31490442 [GRCh38]
Chr16:31501763 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_003041.4(SLC5A2):c.1449+14G>A single nucleotide variant Familial renal glucosuria [RCV000313223] Chr16:31489062 [GRCh38]
Chr16:31500383 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=) single nucleotide variant Familial renal glucosuria [RCV000335236] Chr16:31488629 [GRCh38]
Chr16:31499950 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=) single nucleotide variant Familial renal glucosuria [RCV000314313]|not provided [RCV004694265] Chr16:31488761 [GRCh38]
Chr16:31500082 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1435C>G (p.Arg479Gly) single nucleotide variant Familial renal glucosuria [RCV000408654] Chr16:31489034 [GRCh38]
Chr16:31500355 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys) single nucleotide variant Familial renal glucosuria [RCV000362518] Chr16:31490449 [GRCh38]
Chr16:31501770 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp) single nucleotide variant Familial renal glucosuria [RCV000319270] Chr16:31490211 [GRCh38]
Chr16:31501532 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.568G>A (p.Val190Met) single nucleotide variant Familial renal glucosuria [RCV000341034] Chr16:31486269 [GRCh38]
Chr16:31497590 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu) single nucleotide variant Familial renal glucosuria [RCV000341488] Chr16:31483162 [GRCh38]
Chr16:31494483 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met) single nucleotide variant Familial renal glucosuria [RCV000364196] Chr16:31489267 [GRCh38]
Chr16:31500588 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.890T>C (p.Ile297Thr) single nucleotide variant not provided [RCV000722701] Chr16:31488042 [GRCh38]
Chr16:31499363 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1889AGG[2] (p.Glu632del) microsatellite Familial renal glucosuria [RCV000292292] Chr16:31490405..31490407 [GRCh38]
Chr16:31501726..31501728 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1792+12T>C single nucleotide variant Familial renal glucosuria [RCV000371663] Chr16:31490242 [GRCh38]
Chr16:31501563 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1307T>C (p.Val436Ala) single nucleotide variant Familial renal glucosuria [RCV000391445] Chr16:31488906 [GRCh38]
Chr16:31500227 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) single nucleotide variant Familial renal glucosuria [RCV000379725]|Inborn genetic diseases [RCV002521011] Chr16:31485814 [GRCh38]
Chr16:31497135 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1021+14C>T single nucleotide variant Familial renal glucosuria [RCV001120934] Chr16:31488187 [GRCh38]
Chr16:31499508 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) single nucleotide variant Familial renal glucosuria [RCV000625874] Chr16:31485841 [GRCh38]
Chr16:31497162 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_003041.4(SLC5A2):c.1309T>C (p.Ser437Pro) single nucleotide variant not provided [RCV000722429] Chr16:31488908 [GRCh38]
Chr16:31500229 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] Chr16:30554158..31536880 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4 copy number gain See cases [RCV000447708] Chr16:30830287..31827011 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) deletion Familial renal glucosuria [RCV001280873]|not provided [RCV000483246] Chr16:31488634..31488645 [GRCh38]
Chr16:31499955..31499966 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) single nucleotide variant Familial renal glucosuria [RCV000505656] Chr16:31489124 [GRCh38]
Chr16:31500445 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_003041.4(SLC5A2):c.758G>A (p.Ser253Asn) single nucleotide variant Inborn genetic diseases [RCV003293281] Chr16:31487632 [GRCh38]
Chr16:31498953 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) single nucleotide variant Familial renal glucosuria [RCV000625556] Chr16:31488944 [GRCh38]
Chr16:31500265 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1291del (p.Val431fs) deletion Familial renal glucosuria [RCV000625681] Chr16:31488889 [GRCh38]
Chr16:31500210 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_003041.4(SLC5A2):c.394C>A (p.Arg132Ser) single nucleotide variant Inborn genetic diseases [RCV003248457] Chr16:31485819 [GRCh38]
Chr16:31497140 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1346dup (p.Gly450fs) duplication not provided [RCV000723026] Chr16:31488942..31488943 [GRCh38]
Chr16:31500263..31500264 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3 copy number gain not provided [RCV000739123] Chr16:30738551..34194635 [GRCh37]
Chr16:16p11.2		 benign
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=) single nucleotide variant Familial renal glucosuria [RCV001116119] Chr16:31490529 [GRCh38]
Chr16:31501850 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.127-323G>C single nucleotide variant not provided [RCV001645548] Chr16:31484350 [GRCh38]
Chr16:31495671 [GRCh37]
Chr16:16p11.2		 benign
NM_003041.4(SLC5A2):c.531C>T (p.Ser177=) single nucleotide variant not provided [RCV000996261] Chr16:31486232 [GRCh38]
Chr16:31497553 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.885+5G>A single nucleotide variant Familial renal glucosuria [RCV000779183]|See cases [RCV002252235]|not provided [RCV001578007] Chr16:31487764 [GRCh38]
Chr16:31499085 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_003041.4(SLC5A2):c.1075G>A (p.Val359Met) single nucleotide variant not specified [RCV000791069] Chr16:31488436 [GRCh38]
Chr16:31499757 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) single nucleotide variant Familial renal glucosuria [RCV001117461]|not provided [RCV000967728] Chr16:31489221 [GRCh38]
Chr16:31500542 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_003041.4(SLC5A2):c.655+6G>C single nucleotide variant Familial renal glucosuria [RCV000791058] Chr16:31487406 [GRCh38]
Chr16:31498727 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.*33C>G single nucleotide variant Familial renal glucosuria [RCV001116120]|not provided [RCV004704411] Chr16:31490568 [GRCh38]
Chr16:31501889 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.*70C>G single nucleotide variant Familial renal glucosuria [RCV001117555] Chr16:31490605 [GRCh38]
Chr16:31501926 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr) single nucleotide variant Familial renal glucosuria [RCV001118963] Chr16:31483155 [GRCh38]
Chr16:31494476 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=) single nucleotide variant Familial renal glucosuria [RCV001120933] Chr16:31488160 [GRCh38]
Chr16:31499481 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1665+13G>A single nucleotide variant Familial renal glucosuria [RCV001119065]|not provided [RCV004704418] Chr16:31489351 [GRCh38]
Chr16:31500672 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn) single nucleotide variant Familial renal glucosuria [RCV001029831] Chr16:31484847 [GRCh38]
Chr16:31496168 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) insertion Familial renal glucosuria [RCV000991458] Chr16:31484914..31484915 [GRCh38]
Chr16:31496235..31496236 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu) single nucleotide variant Familial renal glucosuria [RCV001116010] Chr16:31488965 [GRCh38]
Chr16:31500286 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met) single nucleotide variant Familial renal glucosuria [RCV001116012] Chr16:31489016 [GRCh38]
Chr16:31500337 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1449+5G>C single nucleotide variant Familial renal glucosuria [RCV004788536] Chr16:31489053 [GRCh38]
Chr16:31500374 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.950G>A (p.Cys317Tyr) single nucleotide variant not provided [RCV004812697] Chr16:31488102 [GRCh38]
Chr16:31499423 [GRCh37]		 uncertain significance
NM_003041.4(SLC5A2):c.1280+1G>A single nucleotide variant Familial renal glucosuria [RCV002506745]|not provided [RCV001723359] Chr16:31488773 [GRCh38]
Chr16:31500094 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_003041.4(SLC5A2):c.574+212A>T single nucleotide variant not provided [RCV001620905] Chr16:31486487 [GRCh38]
Chr16:31497808 [GRCh37]
Chr16:16p11.2		 benign
NM_003041.4(SLC5A2):c.657C>T (p.Ala219=) single nucleotide variant not provided [RCV000882384] Chr16:31487531 [GRCh38]
Chr16:31498852 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe) single nucleotide variant Familial renal glucosuria [RCV001116118]|not provided [RCV004693712] Chr16:31490528 [GRCh38]
Chr16:31501849 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu) single nucleotide variant Familial renal glucosuria [RCV001117459]|Inborn genetic diseases [RCV002556500]|not provided [RCV003327490] Chr16:31489032 [GRCh38]
Chr16:31500353 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1449+13C>A single nucleotide variant Familial renal glucosuria [RCV001117460] Chr16:31489061 [GRCh38]
Chr16:31500382 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=) single nucleotide variant Familial renal glucosuria [RCV001121031] Chr16:31490322 [GRCh38]
Chr16:31501643 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr) single nucleotide variant Familial renal glucosuria [RCV001121032] Chr16:31490323 [GRCh38]
Chr16:31501644 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.60T>C (p.Ile20=) single nucleotide variant Familial renal glucosuria [RCV001118964]|not provided [RCV000957409] Chr16:31483196 [GRCh38]
Chr16:31494517 [GRCh37]
Chr16:16p11.2		 benign
NM_003041.4(SLC5A2):c.673G>A (p.Gly225Arg) single nucleotide variant Familial renal glucosuria [RCV002468446]|Inborn genetic diseases [RCV003164730] Chr16:31487547 [GRCh38]
Chr16:31498868 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1690C>T (p.Arg564Trp) single nucleotide variant Familial renal glucosuria [RCV002468549] Chr16:31490128 [GRCh38]
Chr16:31501449 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile) single nucleotide variant Familial renal glucosuria [RCV001118965] Chr16:31484698 [GRCh38]
Chr16:31496019 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu) single nucleotide variant Familial renal glucosuria [RCV001120932] Chr16:31488038 [GRCh38]
Chr16:31499359 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) single nucleotide variant Familial renal glucosuria [RCV002503164]|not provided [RCV001702314] Chr16:31488463 [GRCh38]
Chr16:31499784 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala) single nucleotide variant Familial renal glucosuria [RCV001120936] Chr16:31488646 [GRCh38]
Chr16:31499967 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1129+6G>A single nucleotide variant Familial renal glucosuria [RCV001120935] Chr16:31488496 [GRCh38]
Chr16:31499817 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=) single nucleotide variant Familial renal glucosuria [RCV001116009]|not provided [RCV001702765] Chr16:31488767 [GRCh38]
Chr16:31500088 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=) single nucleotide variant Familial renal glucosuria [RCV001121033] Chr16:31490361 [GRCh38]
Chr16:31501682 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr) single nucleotide variant Familial renal glucosuria [RCV001119064]|Inborn genetic diseases [RCV002556535] Chr16:31489318 [GRCh38]
Chr16:31500639 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=) single nucleotide variant Familial renal glucosuria [RCV001119066] Chr16:31490229 [GRCh38]
Chr16:31501550 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro) single nucleotide variant Familial renal glucosuria [RCV001116008] Chr16:31488757 [GRCh38]
Chr16:31500078 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala) single nucleotide variant Familial renal glucosuria [RCV001116011]|not provided [RCV004693709] Chr16:31489008 [GRCh38]
Chr16:31500329 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.*48G>A single nucleotide variant Familial renal glucosuria [RCV001117554] Chr16:31490583 [GRCh38]
Chr16:31501904 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.*160C>T single nucleotide variant Familial renal glucosuria [RCV001117556] Chr16:31490695 [GRCh38]
Chr16:31502016 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1274T>A (p.Val425Glu) single nucleotide variant Familial renal glucosuria [RCV001253277] Chr16:31488766 [GRCh38]
Chr16:31500087 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1429G>C (p.Val477Leu) single nucleotide variant Inborn genetic diseases [RCV004683808] Chr16:31489028 [GRCh38]
Chr16:31500349 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys) single nucleotide variant Familial renal glucosuria [RCV001280857]|Inborn genetic diseases [RCV002542960] Chr16:31488753 [GRCh38]
Chr16:31500074 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His) single nucleotide variant Familial renal glucosuria [RCV001280862] Chr16:31488159 [GRCh38]
Chr16:31499480 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met) single nucleotide variant Familial renal glucosuria [RCV001280818]|not provided [RCV004692401] Chr16:31485796 [GRCh38]
Chr16:31497117 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu) single nucleotide variant Familial renal glucosuria [RCV001280861] Chr16:31485876 [GRCh38]
Chr16:31497197 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1559T>C (p.Phe520Ser) single nucleotide variant not provided [RCV001299740] Chr16:31489232 [GRCh38]
Chr16:31500553 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro) single nucleotide variant Familial renal glucosuria [RCV001281677]|Inborn genetic diseases [RCV002537924] Chr16:31488987 [GRCh38]
Chr16:31500308 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr) single nucleotide variant Familial renal glucosuria [RCV001280882] Chr16:31489325 [GRCh38]
Chr16:31500646 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.295G>C (p.Glu99Gln) single nucleotide variant not provided [RCV001786846] Chr16:31484915 [GRCh38]
Chr16:31496236 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1035_1062del (p.Val346fs) deletion Familial renal glucosuria [RCV001783774] Chr16:31488391..31488418 [GRCh38]
Chr16:31499712..31499739 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) single nucleotide variant Familial renal glucosuria [RCV001783773] Chr16:31488392 [GRCh38]
Chr16:31499713 [GRCh37]
Chr16:16p11.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_003041.4(SLC5A2):c.796C>T (p.Leu266Phe) single nucleotide variant Inborn genetic diseases [RCV004683810] Chr16:31487670 [GRCh38]
Chr16:31498991 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1103G>T (p.Arg368Leu) single nucleotide variant Inborn genetic diseases [RCV004683811] Chr16:31488464 [GRCh38]
Chr16:31499785 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys) single nucleotide variant Familial renal glucosuria [RCV002482345]|Inborn genetic diseases [RCV004671447]|not provided [RCV001814701] Chr16:31488120 [GRCh38]
Chr16:31499441 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1386C>G (p.Tyr462Ter) single nucleotide variant not provided [RCV002211349] Chr16:31488985 [GRCh38]
Chr16:31500306 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1153_1162del (p.Val385fs) deletion Familial renal glucosuria [RCV003131528] Chr16:31488644..31488653 [GRCh38]
Chr16:31499965..31499974 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.683G>T (p.Gly228Val) single nucleotide variant Familial renal glucosuria [RCV002284027] Chr16:31487557 [GRCh38]
Chr16:31498878 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1742C>T (p.Ser581Phe) single nucleotide variant Inborn genetic diseases [RCV002732918] Chr16:31490180 [GRCh38]
Chr16:31501501 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1399G>A (p.Val467Met) single nucleotide variant Inborn genetic diseases [RCV002991969] Chr16:31488998 [GRCh38]
Chr16:31500319 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.407G>A (p.Arg136His) single nucleotide variant Inborn genetic diseases [RCV002817107]|not provided [RCV004703298] Chr16:31485832 [GRCh38]
Chr16:31497153 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.52G>C (p.Ala18Pro) single nucleotide variant Inborn genetic diseases [RCV003000548] Chr16:31483188 [GRCh38]
Chr16:31494509 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.406C>T (p.Arg136Cys) single nucleotide variant Inborn genetic diseases [RCV002694551] Chr16:31485831 [GRCh38]
Chr16:31497152 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1353G>C (p.Gln451His) single nucleotide variant Inborn genetic diseases [RCV002884596] Chr16:31488952 [GRCh38]
Chr16:31500273 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1496G>C (p.Arg499Pro) single nucleotide variant Inborn genetic diseases [RCV002874949] Chr16:31489169 [GRCh38]
Chr16:31500490 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1816C>T (p.Leu606Phe) single nucleotide variant Inborn genetic diseases [RCV002803298] Chr16:31490332 [GRCh38]
Chr16:31501653 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.767A>G (p.Tyr256Cys) single nucleotide variant Inborn genetic diseases [RCV002743982] Chr16:31487641 [GRCh38]
Chr16:31498962 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.602A>G (p.Asp201Gly) single nucleotide variant Inborn genetic diseases [RCV002891748] Chr16:31487347 [GRCh38]
Chr16:31498668 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.4G>A (p.Glu2Lys) single nucleotide variant Inborn genetic diseases [RCV002803385] Chr16:31483140 [GRCh38]
Chr16:31494461 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1876C>T (p.Pro626Ser) single nucleotide variant Inborn genetic diseases [RCV002812647] Chr16:31490392 [GRCh38]
Chr16:31501713 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.599C>T (p.Thr200Met) single nucleotide variant Inborn genetic diseases [RCV002921030] Chr16:31487344 [GRCh38]
Chr16:31498665 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1288G>A (p.Val430Met) single nucleotide variant Inborn genetic diseases [RCV002877999] Chr16:31488887 [GRCh38]
Chr16:31500208 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1415T>C (p.Val472Ala) single nucleotide variant Inborn genetic diseases [RCV002648974] Chr16:31489014 [GRCh38]
Chr16:31500335 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.190T>G (p.Trp64Gly) single nucleotide variant not provided [RCV003328059] Chr16:31484736 [GRCh38]
Chr16:31496057 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.254C>A (p.Ala85Glu) single nucleotide variant Inborn genetic diseases [RCV003195431] Chr16:31484874 [GRCh38]
Chr16:31496195 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.226A>G (p.Ile76Val) single nucleotide variant Familial renal glucosuria [RCV003228572] Chr16:31484846 [GRCh38]
Chr16:31496167 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.655+5G>A single nucleotide variant Familial renal glucosuria [RCV003228581] Chr16:31487405 [GRCh38]
Chr16:31498726 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1729G>A (p.Glu577Lys) single nucleotide variant Inborn genetic diseases [RCV003221087] Chr16:31490167 [GRCh38]
Chr16:31501488 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1373C>T (p.Ala458Val) single nucleotide variant Familial renal glucosuria [RCV003136813] Chr16:31488972 [GRCh38]
Chr16:31500293 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1514C>T (p.Ser505Phe) single nucleotide variant Inborn genetic diseases [RCV003203453] Chr16:31489187 [GRCh38]
Chr16:31500508 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.477G>A (p.Met159Ile) single nucleotide variant Inborn genetic diseases [RCV003219530] Chr16:31486178 [GRCh38]
Chr16:31497499 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1036G>A (p.Val346Met) single nucleotide variant Familial renal glucosuria [RCV003228684] Chr16:31488397 [GRCh38]
Chr16:31499718 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.469-2A>T single nucleotide variant Familial renal glucosuria [RCV003324614] Chr16:31486168 [GRCh38]
Chr16:31497489 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_003041.4(SLC5A2):c.1555_1576del (p.Ala519fs) deletion Familial renal glucosuria [RCV003324620]|SLC5A2-related disorder [RCV003901011] Chr16:31489228..31489249 [GRCh38]
Chr16:31500549..31500570 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_003041.4(SLC5A2):c.1616T>G (p.Leu539Arg) single nucleotide variant Familial renal glucosuria [RCV003330289] Chr16:31489289 [GRCh38]
Chr16:31500610 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1532G>C (p.Cys511Ser) single nucleotide variant Familial renal glucosuria [RCV003338152] Chr16:31489205 [GRCh38]
Chr16:31500526 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.350A>G (p.Tyr117Cys) single nucleotide variant Familial renal glucosuria [RCV003336050] Chr16:31485775 [GRCh38]
Chr16:31497096 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1792+2T>C single nucleotide variant Familial renal glucosuria [RCV003336002] Chr16:31490232 [GRCh38]
Chr16:31501553 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.403G>A (p.Gly135Ser) single nucleotide variant Inborn genetic diseases [RCV003381196] Chr16:31485828 [GRCh38]
Chr16:31497149 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1042C>A (p.Pro348Thr) single nucleotide variant Inborn genetic diseases [RCV003354502] Chr16:31488403 [GRCh38]
Chr16:31499724 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1407del (p.Val470fs) deletion SLC5A2-related disorder [RCV003393251] Chr16:31489005 [GRCh38]
Chr16:31500326 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.776G>A (p.Arg259Gln) single nucleotide variant Familial renal glucosuria [RCV003333362] Chr16:31487650 [GRCh38]
Chr16:31498971 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1594G>C (p.Val532Leu) single nucleotide variant Inborn genetic diseases [RCV003366866] Chr16:31489267 [GRCh38]
Chr16:31500588 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.506del (p.Ala169fs) deletion SLC5A2-related disorder [RCV003419243]|not provided [RCV004598264] Chr16:31486207 [GRCh38]
Chr16:31497528 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_003041.4(SLC5A2):c.163T>C (p.Tyr55His) single nucleotide variant SLC5A2-related disorder [RCV003408473] Chr16:31484709 [GRCh38]
Chr16:31496030 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.872G>A (p.Trp291Ter) single nucleotide variant SLC5A2-related disorder [RCV003391670] Chr16:31487746 [GRCh38]
Chr16:31499067 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1356C>G (p.Leu452=) single nucleotide variant SLC5A2-related disorder [RCV003966369]|not provided [RCV003426685] Chr16:31488955 [GRCh38]
Chr16:31500276 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.1593del (p.Ile531fs) deletion SLC5A2-related disorder [RCV003414575] Chr16:31489265 [GRCh38]
Chr16:31500586 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.503A>G (p.Gln168Arg) single nucleotide variant not provided [RCV003441604] Chr16:31486204 [GRCh38]
Chr16:31497525 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1566C>A (p.Cys522Ter) single nucleotide variant not provided [RCV004588722] Chr16:31489239 [GRCh38]
Chr16:31500560 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.197C>T (p.Pro66Leu) single nucleotide variant Familial renal glucosuria [RCV003984946] Chr16:31484743 [GRCh38]
Chr16:31496064 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.959T>C (p.Leu320Pro) single nucleotide variant Familial renal glucosuria [RCV003984933] Chr16:31488111 [GRCh38]
Chr16:31499432 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.305C>T (p.Ala102Val) single nucleotide variant Familial renal glucosuria [RCV003993618] Chr16:31485730 [GRCh38]
Chr16:31497051 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.885+7G>T single nucleotide variant SLC5A2-related disorder [RCV003901896] Chr16:31487766 [GRCh38]
Chr16:31499087 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.1022-4G>A single nucleotide variant SLC5A2-related disorder [RCV003967281] Chr16:31488379 [GRCh38]
Chr16:31499700 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.1163C>T (p.Ala388Val) single nucleotide variant Familial renal glucosuria [RCV004556931] Chr16:31488655 [GRCh38]
Chr16:31499976 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.484G>A (p.Gly162Arg) single nucleotide variant Familial renal glucosuria [RCV004555344] Chr16:31486185 [GRCh38]
Chr16:31497506 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1678G>T (p.Val560Phe) single nucleotide variant SLC5A2-related disorder [RCV003927017] Chr16:31490116 [GRCh38]
Chr16:31501437 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.178C>T (p.Arg60Cys) single nucleotide variant SLC5A2-related disorder [RCV003904479] Chr16:31484724 [GRCh38]
Chr16:31496045 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.306G>A (p.Ala102=) single nucleotide variant SLC5A2-related disorder [RCV003959402] Chr16:31485731 [GRCh38]
Chr16:31497052 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.843C>A (p.Leu281=) single nucleotide variant SLC5A2-related disorder [RCV003957345] Chr16:31487717 [GRCh38]
Chr16:31499038 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.789C>T (p.Tyr263=) single nucleotide variant SLC5A2-related disorder [RCV003893853] Chr16:31487663 [GRCh38]
Chr16:31498984 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.127-18C>G single nucleotide variant SLC5A2-related disorder [RCV003937259] Chr16:31484655 [GRCh38]
Chr16:31495976 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.1130-4G>A single nucleotide variant SLC5A2-related disorder [RCV003961861] Chr16:31488618 [GRCh38]
Chr16:31499939 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.1409T>A (p.Val470Asp) single nucleotide variant SLC5A2-related disorder [RCV003959325] Chr16:31489008 [GRCh38]
Chr16:31500329 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1606T>C (p.Cys536Arg) single nucleotide variant not provided [RCV003887111] Chr16:31489279 [GRCh38]
Chr16:31500600 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1376T>C (p.Val459Ala) single nucleotide variant Familial renal glucosuria [RCV004555296] Chr16:31488975 [GRCh38]
Chr16:31500296 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1592T>C (p.Ile531Thr) single nucleotide variant Inborn genetic diseases [RCV004464081] Chr16:31489265 [GRCh38]
Chr16:31500586 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1915C>T (p.Arg639Trp) single nucleotide variant Inborn genetic diseases [RCV004464084] Chr16:31490431 [GRCh38]
Chr16:31501752 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1499_1506del (p.Leu500fs) deletion Familial renal glucosuria [RCV003991390] Chr16:31489170..31489177 [GRCh38]
Chr16:31500491..31500498 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_003041.4(SLC5A2):c.697T>C (p.Tyr233His) single nucleotide variant Inborn genetic diseases [RCV004464088] Chr16:31487571 [GRCh38]
Chr16:31498892 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1978A>G (p.Met660Val) single nucleotide variant Familial renal glucosuria [RCV003991203] Chr16:31490494 [GRCh38]
Chr16:31501815 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.430G>A (p.Val144Met) single nucleotide variant Inborn genetic diseases [RCV004464086] Chr16:31485855 [GRCh38]
Chr16:31497176 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.910G>A (p.Gly304Arg) single nucleotide variant Familial renal glucosuria [RCV004555430] Chr16:31488062 [GRCh38]
Chr16:31499383 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1172T>C (p.Met391Thr) single nucleotide variant Inborn genetic diseases [RCV004464079] Chr16:31488664 [GRCh38]
Chr16:31499985 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1646C>T (p.Ala549Val) single nucleotide variant Inborn genetic diseases [RCV004464083] Chr16:31489319 [GRCh38]
Chr16:31500640 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.982A>G (p.Met328Val) single nucleotide variant Inborn genetic diseases [RCV004464089] Chr16:31488134 [GRCh38]
Chr16:31499455 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1133T>C (p.Leu378Pro) single nucleotide variant Inborn genetic diseases [RCV004464077] Chr16:31488625 [GRCh38]
Chr16:31499946 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1153G>C (p.Val385Leu) single nucleotide variant Inborn genetic diseases [RCV004464078] Chr16:31488645 [GRCh38]
Chr16:31499966 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1173G>A (p.Met391Ile) single nucleotide variant Inborn genetic diseases [RCV004464080] Chr16:31488665 [GRCh38]
Chr16:31499986 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1643C>A (p.Thr548Asn) single nucleotide variant Inborn genetic diseases [RCV004464082] Chr16:31489316 [GRCh38]
Chr16:31500637 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.2004G>C (p.Trp668Cys) single nucleotide variant Inborn genetic diseases [RCV004464085] Chr16:31490520 [GRCh38]
Chr16:31501841 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.619G>T (p.Val207Phe) single nucleotide variant Inborn genetic diseases [RCV004464087] Chr16:31487364 [GRCh38]
Chr16:31498685 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.434T>G (p.Leu145Arg) single nucleotide variant Familial renal glucosuria [RCV004598354] Chr16:31485859 [GRCh38]
Chr16:31497180 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1951C>G (p.Arg651Gly) single nucleotide variant Inborn genetic diseases [RCV004674906] Chr16:31490467 [GRCh38]
Chr16:31501788 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1665+1del deletion Familial renal glucosuria [RCV004598330] Chr16:31489339 [GRCh38]
Chr16:31500660 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_003041.4(SLC5A2):c.400G>A (p.Gly134Ser) single nucleotide variant Familial renal glucosuria [RCV004598545] Chr16:31485825 [GRCh38]
Chr16:31497146 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1901C>T (p.Ala634Val) single nucleotide variant Inborn genetic diseases [RCV004674908] Chr16:31490417 [GRCh38]
Chr16:31501738 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.1830C>A (p.Cys610Ter) single nucleotide variant Familial renal glucosuria [RCV004598544] Chr16:31490346 [GRCh38]
Chr16:31501667 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_003041.4(SLC5A2):c.1360G>C (p.Asp454His) single nucleotide variant Familial renal glucosuria [RCV004598347]|Inborn genetic diseases [RCV004674033] Chr16:31488959 [GRCh38]
Chr16:31500280 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.583G>C (p.Ala195Pro) single nucleotide variant Inborn genetic diseases [RCV004674907] Chr16:31487328 [GRCh38]
Chr16:31498649 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.86T>C (p.Ile29Thr) single nucleotide variant Inborn genetic diseases [RCV004674909] Chr16:31483222 [GRCh38]
Chr16:31494543 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.643C>T (p.Leu215Phe) single nucleotide variant Inborn genetic diseases [RCV004674910] Chr16:31487388 [GRCh38]
Chr16:31498709 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_003041.4(SLC5A2):c.1023C>G (p.Asp341Glu) single nucleotide variant Familial renal glucosuria [RCV004598542] Chr16:31488384 [GRCh38]
Chr16:31499705 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_022744.4(RUSF1):c.*601C>G single nucleotide variant C16orf58-related condition [RCV004759011] Chr16:31490234 [GRCh38]
Chr16:31501555 [GRCh37]
Chr16:16p11.2		 likely benign
NM_003041.4(SLC5A2):c.983T>C (p.Met328Thr) single nucleotide variant not provided [RCV004773353] Chr16:31488135 [GRCh38]
Chr16:31499456 [GRCh37]
Chr16:16p11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2993
Count of miRNA genes:849
Interacting mature miRNAs:1041
Transcripts:ENST00000330498, ENST00000419665, ENST00000562006, ENST00000564197, ENST00000565446, ENST00000567051, ENST00000568188, ENST00000568891, ENST00000569576
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.

Markers in Region
RH69206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,501,849 - 31,502,021UniSTSGRCh37
Build 361631,409,350 - 31,409,522RGDNCBI36
Celera1628,806,368 - 28,806,540RGD
Cytogenetic Map16p11.2UniSTS
HuRef1629,062,055 - 29,062,227UniSTS
RH98795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,501,046 - 31,501,166UniSTSGRCh37
Build 361631,408,547 - 31,408,667RGDNCBI36
Celera1628,807,223 - 28,807,343RGD
Cytogenetic Map16p11.2UniSTS
HuRef1629,061,252 - 29,061,372UniSTS
SHGC-58809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,498,601 - 31,498,721UniSTSGRCh37
Build 361631,406,102 - 31,406,222RGDNCBI36
Celera1628,809,668 - 28,809,788RGD
Cytogenetic Map16p11.2UniSTS
HuRef1629,058,807 - 29,058,927UniSTS
TNG Radiation Hybrid Map1617549.0UniSTS
SHGC-61098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,500,821 - 31,500,959UniSTSGRCh37
Build 361631,408,322 - 31,408,460RGDNCBI36
Celera1628,807,430 - 28,807,568RGD
Cytogenetic Map16p11.2UniSTS
HuRef1629,061,027 - 29,061,165UniSTS


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
1092 2386 2450 1975 4672 1582 2228 4 544 1539 397 2164 6126 5569 48 3512 787 1698 1563 160

Sequence


Ensembl Acc Id: ENST00000330498   ⟹   ENSP00000327943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,483,123 - 31,490,769 (+)Ensembl
Ensembl Acc Id: ENST00000419665   ⟹   ENSP00000410601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,483,118 - 31,490,669 (+)Ensembl
Ensembl Acc Id: ENST00000562006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,483,138 - 31,485,616 (+)Ensembl
Ensembl Acc Id: ENST00000564197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,489,489 - 31,490,860 (+)Ensembl
Ensembl Acc Id: ENST00000565446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,484,747 - 31,486,276 (+)Ensembl
Ensembl Acc Id: ENST00000567051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,489,489 - 31,490,845 (+)Ensembl
Ensembl Acc Id: ENST00000568188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,488,020 - 31,490,769 (+)Ensembl
Ensembl Acc Id: ENST00000568891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,488,210 - 31,490,344 (+)Ensembl
Ensembl Acc Id: ENST00000569576   ⟹   ENSP00000455143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,483,002 - 31,486,276 (+)Ensembl
RefSeq Acc Id: NM_003041   ⟹   NP_003032
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,483,123 - 31,490,769 (+)NCBI
GRCh371631,494,439 - 31,502,091 (+)ENTREZGENE
GRCh371631,494,439 - 31,502,091 (+)NCBI
Build 361631,401,940 - 31,409,590 (+)NCBI Archive
HuRef1629,054,639 - 29,062,297 (+)ENTREZGENE
CHM1_11632,813,088 - 32,820,740 (+)NCBI
T2T-CHM13v2.01631,870,510 - 31,878,162 (+)NCBI
Sequence:
RefSeq Acc Id: NR_130783
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,483,123 - 31,490,769 (+)NCBI
CHM1_11632,813,088 - 32,820,740 (+)NCBI
T2T-CHM13v2.01631,870,510 - 31,878,162 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721072   ⟹   XP_006721135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,483,123 - 31,490,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450402   ⟹   XP_024306170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,483,123 - 31,490,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054313745   ⟹   XP_054169720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,870,510 - 31,878,162 (+)NCBI
RefSeq Acc Id: XM_054313746   ⟹   XP_054169721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,870,510 - 31,878,162 (+)NCBI
RefSeq Acc Id: NP_003032   ⟸   NM_003041
- UniProtKB: A2RRD2 (UniProtKB/Swiss-Prot),   P31639 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006721135   ⟸   XM_006721072
- Peptide Label: isoform X1
- UniProtKB: Q8WY15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306170   ⟸   XM_024450402
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000455143   ⟸   ENST00000569576
Ensembl Acc Id: ENSP00000410601   ⟸   ENST00000419665
Ensembl Acc Id: ENSP00000327943   ⟸   ENST00000330498
RefSeq Acc Id: XP_054169720   ⟸   XM_054313745
- Peptide Label: isoform X1
- UniProtKB: Q8WY15 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054169721   ⟸   XM_054313746
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P31639-F1-model_v2 AlphaFold P31639 1-672 view protein structure

Promoters
RGD ID:7232105
Promoter ID:EPDNEW_H21798
Type:multiple initiation site
Name:SLC5A2_1
Description:solute carrier family 5 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,483,123 - 31,483,183EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11037 AgrOrtholog
COSMIC SLC5A2 COSMIC
Ensembl Genes ENSG00000140675 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000330498 ENTREZGENE
  ENST00000330498.4 UniProtKB/Swiss-Prot
  ENST00000419665 ENTREZGENE
  ENST00000419665.6 UniProtKB/Swiss-Prot
  ENST00000569576.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1730.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140675 GTEx
HGNC ID HGNC:11037 ENTREZGENE
Human Proteome Map SLC5A2 Human Proteome Map
InterPro Na/Glc_symporter_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/solute_symporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/solute_symporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6524 UniProtKB/Swiss-Prot
NCBI Gene 6524 ENTREZGENE
OMIM 182381 OMIM
PANTHER SODIUM/GLUCOSE COTRANSPORTER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SSF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35902 PharmGKB
PROSITE NA_SOLUT_SYMP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_SOLUT_SYMP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_SOLUT_SYMP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2RRD2 ENTREZGENE
  H3BP44_HUMAN UniProtKB/TrEMBL
  P31639 ENTREZGENE
  Q8WY15 ENTREZGENE, UniProtKB/TrEMBL
  SC5A2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2RRD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-22 SLC5A2  solute carrier family 5 member 2  GLYS1  glycosuria 1, renal  Data merged from RGD:1354017 737654 PROVISIONAL
2016-02-23 SLC5A2  solute carrier family 5 member 2    solute carrier family 5 (sodium/glucose cotransporter), member 2  Symbol and/or name change 5135510 APPROVED