SLC29A4 (solute carrier family 29 member 4) - Rat Genome Database

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Gene: SLC29A4 (solute carrier family 29 member 4) Homo sapiens
Analyze
Symbol: SLC29A4
Name: solute carrier family 29 member 4
RGD ID: 1321510
HGNC Page HGNC:23097
Description: Enables several functions, including monoamine transmembrane transporter activity; neurotransmitter transmembrane transporter activity; and xenobiotic transmembrane transporter activity. Involved in several processes, including adenosine transport; epinephrine uptake; and monoamine transport. Located in apical plasma membrane and basolateral plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ENT4; equilibrative nucleoside transporter 4; FLJ34923; hENT4; plasma membrane monoamine transporter; PMAT; solute carrier family 29 (equilibrative nucleoside transporter), member 4; solute carrier family 29 (nucleoside transporters), member 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SLC29A4P1   SLC29A4P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3875,282,943 - 5,306,912 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl75,274,369 - 5,306,912 (+)EnsemblGRCh38hg38GRCh38
GRCh3775,322,574 - 5,346,543 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,289,087 - 5,310,230 (+)NCBINCBI36Build 36hg18NCBI36
Build 3475,095,815 - 5,116,931NCBI
Celera75,287,760 - 5,304,022 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef75,237,590 - 5,258,085 (+)NCBIHuRef
CHM1_175,322,266 - 5,343,242 (+)NCBICHM1_1
T2T-CHM13v2.075,400,703 - 5,424,610 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v275,368,916 - 5,390,059 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction 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

Human Phenotype
Megacolon  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Metformin pathways: pharmacokinetics and pharmacodynamics. Gong L, etal., Pharmacogenet Genomics. 2012 Nov;22(11):820-7. doi: 10.1097/FPC.0b013e3283559b22.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:12838422   PMID:14702039   PMID:15448143   PMID:16099839   PMID:16873718   PMID:17018840   PMID:17121826   PMID:17393420   PMID:18523561   PMID:19357181  
PMID:20392501   PMID:20592246   PMID:20858707   PMID:21822668   PMID:21873635   PMID:22396231   PMID:22562044   PMID:23255610   PMID:23505051   PMID:24471494   PMID:26376205   PMID:26590417  
PMID:26760575   PMID:30280653   PMID:30885951   PMID:31537831   PMID:31842924   PMID:33961781   PMID:34551672   PMID:37433992   PMID:37458617  


Genomics

Comparative Map Data
SLC29A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3875,282,943 - 5,306,912 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl75,274,369 - 5,306,912 (+)EnsemblGRCh38hg38GRCh38
GRCh3775,322,574 - 5,346,543 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,289,087 - 5,310,230 (+)NCBINCBI36Build 36hg18NCBI36
Build 3475,095,815 - 5,116,931NCBI
Celera75,287,760 - 5,304,022 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef75,237,590 - 5,258,085 (+)NCBIHuRef
CHM1_175,322,266 - 5,343,242 (+)NCBICHM1_1
T2T-CHM13v2.075,400,703 - 5,424,610 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v275,368,916 - 5,390,059 (+)NCBI
Slc29a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395142,678,226 - 142,708,245 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5142,678,267 - 142,708,245 (+)EnsemblGRCm39 Ensembl
GRCm385142,692,478 - 142,722,490 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5142,692,512 - 142,722,490 (+)EnsemblGRCm38mm10GRCm38
MGSCv375143,178,055 - 143,198,443 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365142,954,391 - 142,977,880 (+)NCBIMGSCv36mm8
Celera5139,765,811 - 139,776,351 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map581.56NCBI
Slc29a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81216,967,047 - 16,998,276 (-)NCBIGRCr8
mRatBN7.21211,853,540 - 11,884,660 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1211,853,540 - 11,874,834 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1212,656,630 - 12,677,805 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01213,279,899 - 13,301,070 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01212,311,024 - 12,332,201 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01213,914,114 - 13,924,511 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1213,914,114 - 13,924,531 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01215,942,167 - 15,976,640 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,241,259 - 12,251,656 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11212,272,150 - 12,284,079 (-)NCBI
Celera1213,639,832 - 13,659,864 (-)NCBICelera
Cytogenetic Map12p11NCBI
Slc29a4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546010,155,899 - 10,181,974 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546010,155,916 - 10,181,974 (+)NCBIChiLan1.0ChiLan1.0
SLC29A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2610,247,668 - 10,268,779 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1758,572,394 - 58,593,482 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v075,538,436 - 5,559,506 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.175,559,540 - 5,576,771 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl75,560,565 - 5,575,637 (+)Ensemblpanpan1.1panPan2
SLC29A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1612,607,708 - 12,634,572 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl612,608,713 - 12,622,478 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha614,078,449 - 14,105,244 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0612,743,923 - 12,770,753 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl612,743,935 - 12,760,238 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1612,554,855 - 12,581,654 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0612,488,064 - 12,514,839 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0612,764,693 - 12,791,487 (-)NCBIUU_Cfam_GSD_1.0
Slc29a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344140,863,645 - 140,887,329 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936765855,667 - 864,900 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936765854,712 - 868,001 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC29A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl33,853,307 - 3,878,236 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.133,854,466 - 3,879,117 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.234,537,619 - 4,541,229 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC29A4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12816,429,879 - 16,450,580 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2816,429,413 - 16,450,324 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660905,524,669 - 5,546,232 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc29a4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474028,254,635 - 28,267,133 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474028,254,635 - 28,280,304 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC29A4
101 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:4532619-5378373)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|See cases [RCV000052255] Chr7:4532619..5378373 [GRCh38]
Chr7:4572250..5418004 [GRCh37]
Chr7:4538776..5384530 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1 copy number loss See cases [RCV000052256] Chr7:5062000..6692258 [GRCh38]
Chr7:5101631..6731889 [GRCh37]
Chr7:5068157..6698414 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1 copy number loss See cases [RCV000052263] Chr7:5062000..5825183 [GRCh38]
Chr7:5101631..5864814 [GRCh37]
Chr7:5068157..5831340 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1 copy number loss See cases [RCV000052266] Chr7:5117519..5880375 [GRCh38]
Chr7:5157150..5920006 [GRCh37]
Chr7:5123676..5886532 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3 copy number gain See cases [RCV000053408] Chr7:4876621..6492003 [GRCh38]
Chr7:4916252..6531634 [GRCh37]
Chr7:4882778..6498159 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3 copy number gain See cases [RCV000663395] Chr7:4644965..5436368 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3 copy number gain See cases [RCV000135371] Chr7:5171797..5480926 [GRCh38]
Chr7:5211428..5520557 [GRCh37]
Chr7:5177954..5487083 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3 copy number gain See cases [RCV000137977] Chr7:4849987..5760088 [GRCh38]
Chr7:4889618..5799719 [GRCh37]
Chr7:4856144..5766245 [NCBI36]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.1(chr7:5089286-5331174)x1 copy number loss See cases [RCV000139044] Chr7:5089286..5331174 [GRCh38]
Chr7:5128917..5370805 [GRCh37]
Chr7:5095443..5337331 [NCBI36]
Chr7:7p22.1		 likely benign|conflicting data from submitters
GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3 copy number gain See cases [RCV000140259] Chr7:5171797..5635439 [GRCh38]
Chr7:5211428..5675070 [GRCh37]
Chr7:5177954..5641596 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
NM_153247.4(SLC29A4):c.218C>T (p.Ala73Val) single nucleotide variant not specified [RCV004285872] Chr7:5290780 [GRCh38]
Chr7:5330411 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.116_124dup (p.Ala39_Gln41dup) duplication not provided [RCV000599370] Chr7:5287928..5287929 [GRCh38]
Chr7:5327559..5327560 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4756391-5934779)x3 copy number gain See cases [RCV000448466] Chr7:4756391..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5268201-5803877)x3 copy number gain See cases [RCV000510522] Chr7:5268201..5803877 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_153247.4(SLC29A4):c.305C>T (p.Thr102Ile) single nucleotide variant not specified [RCV004329611] Chr7:5291127 [GRCh38]
Chr7:5330758 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.937C>G (p.His313Asp) single nucleotide variant not specified [RCV004301553] Chr7:5299042 [GRCh38]
Chr7:5338673 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.361C>T (p.Leu121Phe) single nucleotide variant not specified [RCV004287941] Chr7:5291183 [GRCh38]
Chr7:5330814 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5340345-5641546)x1 copy number loss not provided [RCV000682818] Chr7:5340345..5641546 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5198327-5347753)x1 copy number loss not provided [RCV000682798] Chr7:5198327..5347753 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_153247.4(SLC29A4):c.1383C>A (p.Gly461=) single nucleotide variant SLC29A4-related disorder [RCV003918445]|not provided [RCV000970849] Chr7:5300595 [GRCh38]
Chr7:5340226 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_153247.4(SLC29A4):c.882+8C>T single nucleotide variant not provided [RCV000959667] Chr7:5297206 [GRCh38]
Chr7:5336837 [GRCh37]
Chr7:7p22.1		 benign
NM_153247.4(SLC29A4):c.894C>A (p.Ala298=) single nucleotide variant not provided [RCV000959668] Chr7:5298999 [GRCh38]
Chr7:5338630 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3 copy number gain not provided [RCV000845805] Chr7:5218459..6319917 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5295291-5348925)x1 copy number loss not provided [RCV000845587] Chr7:5295291..5348925 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1084G>A (p.Val362Met) single nucleotide variant SLC29A4-related disorder [RCV003901003]|not specified [RCV004326580] Chr7:5299302 [GRCh38]
Chr7:5338933 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.949G>A (p.Gly317Ser) single nucleotide variant not provided [RCV000953550] Chr7:5299054 [GRCh38]
Chr7:5338685 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_153247.4(SLC29A4):c.1562C>T (p.Thr521Ile) single nucleotide variant not provided [RCV000979622] Chr7:5302908 [GRCh38]
Chr7:5342539 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.70A>C (p.Met24Leu) single nucleotide variant not provided [RCV000959666] Chr7:5287886 [GRCh38]
Chr7:5327517 [GRCh37]
Chr7:7p22.1		 benign
NM_153247.4(SLC29A4):c.1000C>T (p.Arg334Cys) single nucleotide variant not provided [RCV000975144] Chr7:5299105 [GRCh38]
Chr7:5338736 [GRCh37]
Chr7:7p22.1		 benign
NM_153247.4(SLC29A4):c.858C>T (p.Asp286=) single nucleotide variant not provided [RCV000912614] Chr7:5297174 [GRCh38]
Chr7:5336805 [GRCh37]
Chr7:7p22.1		 benign
NM_153247.4(SLC29A4):c.766C>T (p.Arg256Cys) single nucleotide variant not provided [RCV000957600] Chr7:5297082 [GRCh38]
Chr7:5336713 [GRCh37]
Chr7:7p22.1		 benign|likely benign
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_153247.4(SLC29A4):c.896C>T (p.Pro299Leu) single nucleotide variant not specified [RCV004683661] Chr7:5299001 [GRCh38]
Chr7:5338632 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1237C>T (p.Arg413Trp) single nucleotide variant not specified [RCV004683662] Chr7:5300449 [GRCh38]
Chr7:5340080 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5268201-5397816)x1 copy number loss not provided [RCV001259434] Chr7:5268201..5397816 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1 copy number loss Astigmatism [RCV001801207] Chr7:5096876..5569338 [GRCh37]
Chr7:7p22.1		 pathogenic
NC_000007.13:g.5239584_5401976dup duplication Megacolon [RCV001290078] Chr7:5239584..5401976 [GRCh37]
Chr7:7p22.1		 uncertain significance
NC_000007.13:g.(?_4815347)_(5792630_?)dup duplication Baraitser-Winter syndrome 1 [RCV001978085] Chr7:4815347..5792630 [GRCh37]
Chr7:7p22.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_153247.4(SLC29A4):c.535G>A (p.Gly179Ser) single nucleotide variant not specified [RCV004076222] Chr7:5291812 [GRCh38]
Chr7:5331443 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.235G>A (p.Val79Met) single nucleotide variant not specified [RCV004131032] Chr7:5290797 [GRCh38]
Chr7:5330428 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.787A>C (p.Thr263Pro) single nucleotide variant not specified [RCV004140019] Chr7:5297103 [GRCh38]
Chr7:5336734 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.853C>T (p.His285Tyr) single nucleotide variant not specified [RCV004171330] Chr7:5297169 [GRCh38]
Chr7:5336800 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1574C>G (p.Ser525Cys) single nucleotide variant not specified [RCV004170162] Chr7:5302920 [GRCh38]
Chr7:5342551 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1325C>G (p.Ala442Gly) single nucleotide variant not specified [RCV004149576] Chr7:5300537 [GRCh38]
Chr7:5340168 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1571G>C (p.Gly524Ala) single nucleotide variant not specified [RCV004146180] Chr7:5302917 [GRCh38]
Chr7:5342548 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1 copy number loss not provided [RCV002475747] Chr7:4655928..5990874 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_153247.4(SLC29A4):c.1310C>T (p.Pro437Leu) single nucleotide variant not specified [RCV004161991] Chr7:5300522 [GRCh38]
Chr7:5340153 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.775C>G (p.Leu259Val) single nucleotide variant not specified [RCV004088736] Chr7:5297091 [GRCh38]
Chr7:5336722 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1331G>A (p.Arg444His) single nucleotide variant not specified [RCV004184367] Chr7:5300543 [GRCh38]
Chr7:5340174 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.955G>A (p.Gly319Ser) single nucleotide variant not specified [RCV004126270] Chr7:5299060 [GRCh38]
Chr7:5338691 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.175G>A (p.Asp59Asn) single nucleotide variant not specified [RCV004113036] Chr7:5290737 [GRCh38]
Chr7:5330368 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1238G>A (p.Arg413Gln) single nucleotide variant not specified [RCV004225432] Chr7:5300450 [GRCh38]
Chr7:5340081 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1582G>A (p.Ala528Thr) single nucleotide variant not specified [RCV004172655] Chr7:5302928 [GRCh38]
Chr7:5342559 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1529G>A (p.Arg510His) single nucleotide variant not specified [RCV004100526] Chr7:5302875 [GRCh38]
Chr7:5342506 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1001G>A (p.Arg334His) single nucleotide variant not specified [RCV004241704] Chr7:5299106 [GRCh38]
Chr7:5338737 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.107C>T (p.Ala36Val) single nucleotide variant not specified [RCV004241732] Chr7:5287923 [GRCh38]
Chr7:5327554 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.616G>A (p.Glu206Lys) single nucleotide variant not specified [RCV004155092] Chr7:5294931 [GRCh38]
Chr7:5334562 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.190G>A (p.Asp64Asn) single nucleotide variant not specified [RCV004231437] Chr7:5290752 [GRCh38]
Chr7:5330383 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1222C>G (p.Leu408Val) single nucleotide variant not specified [RCV004173761] Chr7:5300434 [GRCh38]
Chr7:5340065 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.958G>A (p.Gly320Arg) single nucleotide variant not specified [RCV004186824] Chr7:5299063 [GRCh38]
Chr7:5338694 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1407C>G (p.Ile469Met) single nucleotide variant not specified [RCV004212557] Chr7:5300619 [GRCh38]
Chr7:5340250 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.836A>G (p.Tyr279Cys) single nucleotide variant not specified [RCV004078029] Chr7:5297152 [GRCh38]
Chr7:5336783 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.844C>G (p.Arg282Gly) single nucleotide variant not specified [RCV004251582] Chr7:5297160 [GRCh38]
Chr7:5336791 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.116C>T (p.Ala39Val) single nucleotide variant not specified [RCV004253997] Chr7:5287932 [GRCh38]
Chr7:5327563 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1042G>A (p.Val348Met) single nucleotide variant not specified [RCV004335266] Chr7:5299260 [GRCh38]
Chr7:5338891 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.230C>A (p.Ala77Asp) single nucleotide variant not specified [RCV004352898] Chr7:5290792 [GRCh38]
Chr7:5330423 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.601G>C (p.Gly201Arg) single nucleotide variant not specified [RCV004356466] Chr7:5294916 [GRCh38]
Chr7:5334547 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.622A>G (p.Thr208Ala) single nucleotide variant not specified [RCV004342111] Chr7:5296938 [GRCh38]
Chr7:5336569 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:4909470-5331753)x3 copy number gain not provided [RCV003484675] Chr7:4909470..5331753 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5222869-5427128)x3 copy number gain not provided [RCV003484676] Chr7:5222869..5427128 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1263C>T (p.Ser421=) single nucleotide variant not provided [RCV003423540] Chr7:5300475 [GRCh38]
Chr7:5340106 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5341735-5412867)x1 copy number loss not provided [RCV003482951] Chr7:5341735..5412867 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_153247.4(SLC29A4):c.411C>G (p.Thr137=) single nucleotide variant SLC29A4-related disorder [RCV003980938]|not provided [RCV003423539] Chr7:5291233 [GRCh38]
Chr7:5330864 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.1556C>T (p.Ala519Val) single nucleotide variant not provided [RCV003423541] Chr7:5302902 [GRCh38]
Chr7:5342533 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.978T>C (p.Asp326=) single nucleotide variant SLC29A4-related disorder [RCV003982462] Chr7:5299083 [GRCh38]
Chr7:5338714 [GRCh37]
Chr7:7p22.1		 benign
NM_153247.4(SLC29A4):c.739C>T (p.Leu247=) single nucleotide variant SLC29A4-related disorder [RCV003981735] Chr7:5297055 [GRCh38]
Chr7:5336686 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.984G>A (p.Pro328=) single nucleotide variant SLC29A4-related disorder [RCV003977205] Chr7:5299089 [GRCh38]
Chr7:5338720 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.1041C>T (p.Tyr347=) single nucleotide variant SLC29A4-related disorder [RCV003942260] Chr7:5299259 [GRCh38]
Chr7:5338890 [GRCh37]
Chr7:7p22.1		 benign
NM_153247.4(SLC29A4):c.86A>G (p.Asp29Gly) single nucleotide variant SLC29A4-related disorder [RCV003937219] Chr7:5287902 [GRCh38]
Chr7:5327533 [GRCh37]
Chr7:7p22.1		 benign
NM_153247.4(SLC29A4):c.545-4T>C single nucleotide variant SLC29A4-related disorder [RCV003964509] Chr7:5294856 [GRCh38]
Chr7:5334487 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.111G>A (p.Ala37=) single nucleotide variant SLC29A4-related disorder [RCV003931470] Chr7:5287927 [GRCh38]
Chr7:5327558 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.921A>G (p.Pro307=) single nucleotide variant SLC29A4-related disorder [RCV003947207] Chr7:5299026 [GRCh38]
Chr7:5338657 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.84C>T (p.Phe28=) single nucleotide variant SLC29A4-related disorder [RCV003933815] Chr7:5287900 [GRCh38]
Chr7:5327531 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.957C>T (p.Gly319=) single nucleotide variant SLC29A4-related disorder [RCV003976670] Chr7:5299062 [GRCh38]
Chr7:5338693 [GRCh37]
Chr7:7p22.1		 benign
NM_153247.4(SLC29A4):c.1200C>T (p.Phe400=) single nucleotide variant SLC29A4-related disorder [RCV003917344]|not provided [RCV004810611] Chr7:5299418 [GRCh38]
Chr7:5339049 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.1122C>T (p.Leu374=) single nucleotide variant SLC29A4-related disorder [RCV003914132] Chr7:5299340 [GRCh38]
Chr7:5338971 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.1056G>C (p.Val352=) single nucleotide variant SLC29A4-related disorder [RCV003967258] Chr7:5299274 [GRCh38]
Chr7:5338905 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.948C>T (p.Thr316=) single nucleotide variant SLC29A4-related disorder [RCV003909754] Chr7:5299053 [GRCh38]
Chr7:5338684 [GRCh37]
Chr7:7p22.1		 likely benign
NM_153247.4(SLC29A4):c.1005C>G (p.Ser335Arg) single nucleotide variant not specified [RCV004458958] Chr7:5299110 [GRCh38]
Chr7:5338741 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1017C>G (p.Phe339Leu) single nucleotide variant not specified [RCV004458959] Chr7:5299122 [GRCh38]
Chr7:5338753 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1370G>C (p.Gly457Ala) single nucleotide variant not specified [RCV004458962] Chr7:5300582 [GRCh38]
Chr7:5340213 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.572C>T (p.Thr191Met) single nucleotide variant not specified [RCV004458965] Chr7:5294887 [GRCh38]
Chr7:5334518 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.650G>C (p.Arg217Pro) single nucleotide variant not specified [RCV004458968] Chr7:5296966 [GRCh38]
Chr7:5336597 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.709G>C (p.Val237Leu) single nucleotide variant not specified [RCV004458969] Chr7:5297025 [GRCh38]
Chr7:5336656 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.917C>G (p.Ser306Cys) single nucleotide variant not specified [RCV004458972] Chr7:5299022 [GRCh38]
Chr7:5338653 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.596C>T (p.Thr199Met) single nucleotide variant not specified [RCV004458967] Chr7:5294911 [GRCh38]
Chr7:5334542 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1088C>T (p.Thr363Ile) single nucleotide variant not specified [RCV004458960] Chr7:5299306 [GRCh38]
Chr7:5338937 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.439C>T (p.Leu147Phe) single nucleotide variant not specified [RCV004458964] Chr7:5291716 [GRCh38]
Chr7:5331347 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.85G>A (p.Asp29Asn) single nucleotide variant not specified [RCV004458970] Chr7:5287901 [GRCh38]
Chr7:5327532 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.908C>T (p.Pro303Leu) single nucleotide variant not specified [RCV004458971] Chr7:5299013 [GRCh38]
Chr7:5338644 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.967A>G (p.Met323Val) single nucleotide variant not specified [RCV004458973] Chr7:5299072 [GRCh38]
Chr7:5338703 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1327C>T (p.Leu443Phe) single nucleotide variant not specified [RCV004458961] Chr7:5300539 [GRCh38]
Chr7:5340170 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.578T>C (p.Met193Thr) single nucleotide variant not specified [RCV004458966] Chr7:5294893 [GRCh38]
Chr7:5334524 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.985C>T (p.Arg329Trp) single nucleotide variant not specified [RCV004672465] Chr7:5299090 [GRCh38]
Chr7:5338721 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1324G>A (p.Ala442Thr) single nucleotide variant not specified [RCV004672466] Chr7:5300536 [GRCh38]
Chr7:5340167 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1474A>G (p.Met492Val) single nucleotide variant not specified [RCV004672467] Chr7:5302820 [GRCh38]
Chr7:5342451 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.361C>G (p.Leu121Val) single nucleotide variant not specified [RCV004672468] Chr7:5291183 [GRCh38]
Chr7:5330814 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1583C>A (p.Ala528Glu) single nucleotide variant not specified [RCV004672462] Chr7:5302929 [GRCh38]
Chr7:5342560 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.110C>T (p.Ala37Val) single nucleotide variant not specified [RCV004672464] Chr7:5287926 [GRCh38]
Chr7:5327557 [GRCh37]
Chr7:7p22.1		 uncertain significance
NC_000007.13:g.(?_4815347)_(5792630_?)del deletion Baraitser-Winter syndrome 1 [RCV004583510] Chr7:4815347..5792630 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1487C>T (p.Thr496Met) single nucleotide variant SLC29A4-related disorder [RCV004757832] Chr7:5302833 [GRCh38]
Chr7:5342464 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1589T>G (p.Leu530Arg) single nucleotide variant SLC29A4-related disorder [RCV004757664] Chr7:5302935 [GRCh38]
Chr7:5342566 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.672_674dup (p.Pro225_Asp226insPro) duplication SLC29A4-related disorder [RCV004757871] Chr7:5296987..5296988 [GRCh38]
Chr7:5336618..5336619 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1497C>T (p.Ser499=) single nucleotide variant SLC29A4-related disorder [RCV004757755] Chr7:5302843 [GRCh38]
Chr7:5342474 [GRCh37]
Chr7:7p22.1		 benign
NM_153247.4(SLC29A4):c.319G>A (p.Asp107Asn) single nucleotide variant not specified [RCV004859977] Chr7:5291141 [GRCh38]
Chr7:5330772 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.929G>C (p.Ser310Thr) single nucleotide variant not specified [RCV004859979] Chr7:5299034 [GRCh38]
Chr7:5338665 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.623C>T (p.Thr208Met) single nucleotide variant not specified [RCV004859976] Chr7:5296939 [GRCh38]
Chr7:5336570 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1052G>A (p.Arg351Gln) single nucleotide variant not specified [RCV004859978] Chr7:5299270 [GRCh38]
Chr7:5338901 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.1367T>C (p.Met456Thr) single nucleotide variant not specified [RCV004859980] Chr7:5300579 [GRCh38]
Chr7:5340210 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.623C>A (p.Thr208Lys) single nucleotide variant not specified [RCV004859981] Chr7:5296939 [GRCh38]
Chr7:5336570 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.154G>C (p.Ala52Pro) single nucleotide variant not specified [RCV004868146] Chr7:5287970 [GRCh38]
Chr7:5327601 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.850C>T (p.His284Tyr) single nucleotide variant not specified [RCV004868147] Chr7:5297166 [GRCh38]
Chr7:5336797 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_153247.4(SLC29A4):c.629G>A (p.Gly210Asp) single nucleotide variant not specified [RCV004868148] Chr7:5296945 [GRCh38]
Chr7:5336576 [GRCh37]
Chr7:7p22.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5113
Count of miRNA genes:937
Interacting mature miRNAs:1147
Transcripts:ENST00000297195, ENST00000396872, ENST00000406453, ENST00000434816, ENST00000439491, ENST00000444741
Prediction methods:Microtar, Miranda, Rnahybrid
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
597293976GWAS1390050_Hphosphatidylethanolamine measurement QTL GWAS1390050 (human)2e-08phosphatidylethanolamine measurement752877875287788Human
1643402BMD2_HBone mineral density QTL 2 (human)2.690.0002Bone mineral density7122435431Human
1643247BW130_HBody Weight QTL 130 (human)1.280.008Body weightbody mass index7117453493Human
1643391BW322_HBody weight QTL 322 (human)2.690.0002Body fat amount7122435431Human
597275237GWAS1371311_Heducational attainment QTL GWAS1371311 (human)6e-09educational attainment752898175289818Human
597043627GWAS1139701_Hbrain infarction, neuritic plaque measurement, Lewy body dementia, cerebral amyloid angiopathy, neurofibrillary tangles measurement QTL GWAS1139701 (human)0.000004brain infarction, neuritic plaque measurement, Lewy body dementia, cerebral amyloid angiopathy, neurofibrillary tangles measurement752964745296475Human

Markers in Region
T15458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,343,508 - 5,343,657UniSTSGRCh37
Build 3675,310,034 - 5,310,183RGDNCBI36
Celera75,303,826 - 5,303,975RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,257,889 - 5,258,038UniSTS
CRA_TCAGchr7v275,389,863 - 5,390,012UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S2126E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22.1UniSTS
TNG Radiation Hybrid Map727767.0UniSTS
Stanford-G3 RH Map72629.0UniSTS
GeneMap99-GB4 RH Map7323.79UniSTS
GeneMap99-G3 RH Map72629.0UniSTS
D7S541E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22.1UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S541E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22.1UniSTS


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
visual system
1204 2437 2788 2247 4971 1724 2348 4 621 1920 463 2269 7264 6434 53 3733 850 1739 1615 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001040661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL515106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY485959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM069878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU740709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H07897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000297195   ⟹   ENSP00000297195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,282,969 - 5,304,060 (+)Ensembl
Ensembl Acc Id: ENST00000396872   ⟹   ENSP00000380081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,282,943 - 5,306,912 (+)Ensembl
Ensembl Acc Id: ENST00000406453   ⟹   ENSP00000385845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,283,029 - 5,304,060 (+)Ensembl
Ensembl Acc Id: ENST00000434816   ⟹   ENSP00000406803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,274,369 - 5,291,766 (+)Ensembl
Ensembl Acc Id: ENST00000439491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,299,329 - 5,303,680 (+)Ensembl
Ensembl Acc Id: ENST00000444741   ⟹   ENSP00000413271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,282,962 - 5,291,767 (+)Ensembl
RefSeq Acc Id: NM_001040661   ⟹   NP_001035751
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,282,943 - 5,306,912 (+)NCBI
GRCh3775,322,561 - 5,343,704 (+)ENTREZGENE
Build 3675,289,087 - 5,310,230 (+)NCBI Archive
HuRef75,237,590 - 5,258,085 (+)ENTREZGENE
CHM1_175,322,266 - 5,343,242 (+)NCBI
T2T-CHM13v2.075,400,703 - 5,424,610 (+)NCBI
CRA_TCAGchr7v275,368,916 - 5,390,059 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001300847   ⟹   NP_001287776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,282,943 - 5,306,912 (+)NCBI
CHM1_175,322,266 - 5,343,242 (+)NCBI
T2T-CHM13v2.075,400,703 - 5,424,610 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153247   ⟹   NP_694979
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,282,943 - 5,306,912 (+)NCBI
GRCh3775,322,561 - 5,343,704 (+)ENTREZGENE
Build 3675,289,087 - 5,310,230 (+)NCBI Archive
HuRef75,237,590 - 5,258,085 (+)ENTREZGENE
CHM1_175,322,266 - 5,343,242 (+)NCBI
T2T-CHM13v2.075,400,703 - 5,424,610 (+)NCBI
CRA_TCAGchr7v275,368,916 - 5,390,059 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_001035751   ⟸   NM_001040661
- Peptide Label: isoform 1
- UniProtKB: Q8NAR3 (UniProtKB/Swiss-Prot),   Q86WY8 (UniProtKB/Swiss-Prot),   Q6PJ08 (UniProtKB/Swiss-Prot),   Q8NBM2 (UniProtKB/Swiss-Prot),   Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_694979   ⟸   NM_153247
- Peptide Label: isoform 1
- UniProtKB: Q8NAR3 (UniProtKB/Swiss-Prot),   Q86WY8 (UniProtKB/Swiss-Prot),   Q6PJ08 (UniProtKB/Swiss-Prot),   Q8NBM2 (UniProtKB/Swiss-Prot),   Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001287776   ⟸   NM_001300847
- Peptide Label: isoform 2
- UniProtKB: Q7RTT9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000297195   ⟸   ENST00000297195
Ensembl Acc Id: ENSP00000413271   ⟸   ENST00000444741
Ensembl Acc Id: ENSP00000385845   ⟸   ENST00000406453
Ensembl Acc Id: ENSP00000406803   ⟸   ENST00000434816
Ensembl Acc Id: ENSP00000380081   ⟸   ENST00000396872

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7RTT9-F1-model_v2 AlphaFold Q7RTT9 1-530 view protein structure

Promoters
RGD ID:7209861
Promoter ID:EPDNEW_H10676
Type:initiation region
Name:SLC29A4_1
Description:solute carrier family 29 member 4
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
GRCh3875,282,946 - 5,283,006EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23097 AgrOrtholog
COSMIC SLC29A4 COSMIC
Ensembl Genes ENSG00000164638 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297195 ENTREZGENE
  ENST00000297195.8 UniProtKB/Swiss-Prot
  ENST00000396872 ENTREZGENE
  ENST00000396872.8 UniProtKB/Swiss-Prot
  ENST00000406453 ENTREZGENE
  ENST00000406453.3 UniProtKB/Swiss-Prot
GTEx ENSG00000164638 GTEx
HGNC ID HGNC:23097 ENTREZGENE
Human Proteome Map SLC29A4 Human Proteome Map
InterPro Eqnu_transpt UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot
KEGG Report hsa:222962 UniProtKB/Swiss-Prot
NCBI Gene 222962 ENTREZGENE
OMIM 609149 OMIM
PANTHER EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 4 UniProtKB/Swiss-Prot
  PTHR10332 UniProtKB/Swiss-Prot
Pfam Nucleoside_tran UniProtKB/Swiss-Prot
PharmGKB PA134976472 PharmGKB
PIRSF ENT UniProtKB/Swiss-Prot
PRINTS DERENTRNSPRT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot
UniProt C9IYM7_HUMAN UniProtKB/TrEMBL
  C9JZA2_HUMAN UniProtKB/TrEMBL
  Q6PJ08 ENTREZGENE
  Q7RTT9 ENTREZGENE
  Q86WY8 ENTREZGENE
  Q8NAR3 ENTREZGENE
  Q8NBM2 ENTREZGENE
  S29A4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6PJ08 UniProtKB/Swiss-Prot
  Q86WY8 UniProtKB/Swiss-Prot
  Q8NAR3 UniProtKB/Swiss-Prot
  Q8NBM2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC29A4  solute carrier family 29 member 4  SLC29A4  solute carrier family 29 (equilibrative nucleoside transporter), member 4  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC29A4  solute carrier family 29 (equilibrative nucleoside transporter), member 4  SLC29A4  solute carrier family 29 (nucleoside transporters), member 4  Symbol and/or name change 5135510 APPROVED