SLC17A8 (solute carrier family 17 member 8) - Rat Genome Database

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Gene: SLC17A8 (solute carrier family 17 member 8) Homo sapiens
Analyze
Symbol: SLC17A8
Name: solute carrier family 17 member 8
RGD ID: 733222
HGNC Page HGNC:20151
Description: Enables L-glutamate uniporter activity and sodium:phosphate symporter activity. Involved in L-glutamate transmembrane transport; neurotransmitter loading into synaptic vesicle; and phosphate ion homeostasis. Predicted to be located in several cellular components, including axon; cytoplasmic vesicle; and dendrite. Predicted to be part of chloride channel complex. Predicted to be active in excitatory synapse and synaptic vesicle membrane. Implicated in autosomal dominant nonsyndromic deafness 25.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deafness, autosomal dominant 25; DFNA25; solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8; solute carrier family 17 (vesicular glutamate transporter), member 8; vesicular glutamate transporter 3; VGLUT3
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
GRCh3812100,357,074 - 100,422,055 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12100,357,074 - 100,422,055 (+)EnsemblGRCh38hg38GRCh38
GRCh3712100,750,852 - 100,815,833 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361299,275,125 - 99,339,968 (+)NCBINCBI36Build 36hg18NCBI36
Build 341299,253,461 - 99,318,305NCBI
Celera12100,416,121 - 100,481,106 (+)NCBICelera
Cytogenetic Map12q23.1NCBI
HuRef1297,811,908 - 97,876,895 (+)NCBIHuRef
CHM1_112100,716,885 - 100,781,879 (+)NCBICHM1_1
T2T-CHM13v2.012100,318,500 - 100,383,494 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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
References

References - curated
# Reference Title Reference Citation
1. Up-regulation in expression of vesicular glutamate transporter 3 in substantia nigra but not in striatum of 6-hydroxydopamine-lesioned rats. Chung EK, etal., Neurosignals. 2006-2007;15(5):238-48. Epub 2007 Apr 13.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Glutamate co-transmission from developing medial nucleus of the trapezoid body--lateral superior olive synapses is cochlear dependent in kanamycin-treated rats. Lee JH, etal., Biochem Biophys Res Commun. 2011 Feb 11;405(2):162-7. doi: 10.1016/j.bbrc.2010.12.129. Epub 2011 Jan 5.
4. Age and meloxicam modify the response of the glutamate vesicular transporters (VGLUTs) after transient global cerebral ischemia in the rat brain. Llorente IL, etal., Brain Res Bull. 2013 May;94:90-7. doi: 10.1016/j.brainresbull.2013.02.006. Epub 2013 Feb 28.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. The auditory hair cell ribbon synapse: from assembly to function. Safieddine S, etal., Annu Rev Neurosci. 2012;35:509-28. doi: 10.1146/annurev-neuro-061010-113705.
11. Differential effects of natural rewards and pain on vesicular glutamate transporter expression in the nucleus accumbens. Tukey DS, etal., Mol Brain. 2013 Jul 9;6:32. doi: 10.1186/1756-6606-6-32.
12. Vesicular glutamate transporter-3 contributes to visceral hyperalgesia induced by Trichinella spiralis infection in rats. Yang CQ, etal., Dig Dis Sci. 2012 Apr;57(4):865-72. doi: 10.1007/s10620-011-1970-x. Epub 2011 Dec 9.
Additional References at PubMed
PMID:11115382   PMID:12097496   PMID:12151341   PMID:12477932   PMID:15102489   PMID:16516863   PMID:16722234   PMID:17660252   PMID:18498073   PMID:18674745   PMID:20301607   PMID:21873635  
PMID:23341777   PMID:26239290   PMID:26558771   PMID:26797701   PMID:28314816   PMID:28647561   PMID:29997244   PMID:32296183   PMID:32873747   PMID:33440152   PMID:33660365   PMID:33961781  
PMID:34145196   PMID:36724073  


Genomics

Comparative Map Data
SLC17A8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812100,357,074 - 100,422,055 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12100,357,074 - 100,422,055 (+)EnsemblGRCh38hg38GRCh38
GRCh3712100,750,852 - 100,815,833 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361299,275,125 - 99,339,968 (+)NCBINCBI36Build 36hg18NCBI36
Build 341299,253,461 - 99,318,305NCBI
Celera12100,416,121 - 100,481,106 (+)NCBICelera
Cytogenetic Map12q23.1NCBI
HuRef1297,811,908 - 97,876,895 (+)NCBIHuRef
CHM1_112100,716,885 - 100,781,879 (+)NCBICHM1_1
T2T-CHM13v2.012100,318,500 - 100,383,494 (+)NCBIT2T-CHM13v2.0
Slc17a8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391089,409,882 - 89,457,111 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1089,409,882 - 89,457,115 (-)EnsemblGRCm39 Ensembl
GRCm381089,574,020 - 89,621,249 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1089,574,020 - 89,621,253 (-)EnsemblGRCm38mm10GRCm38
MGSCv371089,036,765 - 89,083,994 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361089,003,819 - 89,051,048 (-)NCBIMGSCv36mm8
Celera1091,564,557 - 91,621,586 (-)NCBICelera
Cytogenetic Map10C2NCBI
cM Map1044.99NCBI
Slc17a8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8725,881,557 - 25,936,837 (-)NCBIGRCr8
mRatBN7.2723,994,212 - 24,049,498 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl723,994,217 - 24,048,079 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx725,988,747 - 26,042,586 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0728,151,175 - 28,205,018 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0727,928,480 - 27,982,327 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0730,215,231 - 30,274,993 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl730,216,104 - 30,274,984 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0730,314,804 - 30,371,888 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4726,361,488 - 26,413,820 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1726,381,758 - 26,434,091 (-)NCBI
Celera721,139,735 - 21,191,778 (-)NCBICelera
Cytogenetic Map7q13NCBI
Slc17a8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540536,063,688 - 36,115,312 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540536,063,688 - 36,115,312 (+)NCBIChiLan1.0ChiLan1.0
SLC17A8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210108,418,745 - 108,485,542 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112108,415,176 - 108,481,943 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01297,935,177 - 98,001,240 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112101,342,113 - 101,405,844 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12101,342,113 - 101,405,844 (+)Ensemblpanpan1.1panPan2
SLC17A8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11539,443,790 - 39,489,988 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1539,443,518 - 39,486,595 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1539,811,154 - 39,867,358 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01540,095,889 - 40,152,069 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1540,106,972 - 40,150,689 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11539,364,747 - 39,409,505 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01539,459,835 - 39,516,030 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01539,733,977 - 39,790,150 (+)NCBIUU_Cfam_GSD_1.0
Slc17a8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494520,425,587 - 20,475,772 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649213,435,848 - 13,486,169 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649213,436,136 - 13,486,173 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC17A8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl583,741,715 - 83,800,808 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1583,741,641 - 83,809,472 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2587,686,292 - 87,696,625 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC17A8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11195,673,205 - 95,740,037 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1195,674,195 - 95,739,040 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037149,304,943 - 149,371,896 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc17a8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247507,345,557 - 7,396,154 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247507,345,411 - 7,396,445 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC17A8
247 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114670]|not provided [RCV000522096] Chr12:100380769 [GRCh38]
Chr12:100774547 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000003256]|not provided [RCV000724921] Chr12:100396373 [GRCh38]
Chr12:100790151 [GRCh37]
Chr12:12q23.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000305950]|SLC17A8-related disorder [RCV003964889]|not provided [RCV002054804]|not specified [RCV000041152] Chr12:100380770 [GRCh38]
Chr12:100774548 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000309472]|not provided [RCV000893657]|not specified [RCV000041153] Chr12:100380935 [GRCh38]
Chr12:100774713 [GRCh37]
Chr12:12q23.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000336046]|not provided [RCV000973500]|not specified [RCV000041154] Chr12:100357445 [GRCh38]
Chr12:100751223 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000333169]|not provided [RCV000960479]|not specified [RCV000041155] Chr12:100401811 [GRCh38]
Chr12:100795589 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.2(SLC17A8):c.1356C>T (p.Ile452=) single nucleotide variant Malignant melanoma [RCV000070270] Chr12:100418087 [GRCh38]
Chr12:100811865 [GRCh37]
Chr12:99335996 [NCBI36]
Chr12:12q23.1
not provided
NM_139319.3(SLC17A8):c.139G>C (p.Glu47Gln) single nucleotide variant Inborn genetic diseases [RCV003258915]|not provided [RCV000658007] Chr12:100380738 [GRCh38]
Chr12:100774516 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.2(SLC17A8):c.101+10967A>G single nucleotide variant Lung cancer [RCV000110524] Chr12:100368459 [GRCh38]
Chr12:100762237 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111387]|not provided [RCV001697171]|not specified [RCV000180002] Chr12:100402434 [GRCh38]
Chr12:100796212 [GRCh37]
Chr12:12q23.1
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3 copy number gain See cases [RCV000137891] Chr12:97394550..101410225 [GRCh38]
Chr12:97788328..101804003 [GRCh37]
Chr12:96312459..100328134 [NCBI36]
Chr12:12q23.1-23.2
likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11
pathogenic
NM_139319.3(SLC17A8):c.354+4G>C single nucleotide variant not specified [RCV000156192] Chr12:100380957 [GRCh38]
Chr12:100774735 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1298-14dup duplication not provided [RCV003764965]|not specified [RCV000156194] Chr12:100418011..100418012 [GRCh38]
Chr12:100811789..100811790 [GRCh37]
Chr12:12q23.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001113389]|Inborn genetic diseases [RCV002515030]|not provided [RCV000767164]|not specified [RCV000156602] Chr12:100418127 [GRCh38]
Chr12:100811905 [GRCh37]
Chr12:12q23.1
conflicting interpretations of pathogenicity|uncertain significance
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile) single nucleotide variant Inborn genetic diseases [RCV004019825]|not provided [RCV000839952]|not specified [RCV000151878] Chr12:100380909 [GRCh38]
Chr12:100774687 [GRCh37]
Chr12:12q23.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile) single nucleotide variant not provided [RCV000993012]|not specified [RCV000151881] Chr12:100402430 [GRCh38]
Chr12:100796208 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.705G>A (p.Met235Ile) single nucleotide variant not specified [RCV000155276] Chr12:100401805 [GRCh38]
Chr12:100795583 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000297494]|SLC17A8-related disorder [RCV003952783]|not provided [RCV000948401]|not specified [RCV000155387] Chr12:100357414 [GRCh38]
Chr12:100751192 [GRCh37]
Chr12:12q23.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_139319.3(SLC17A8):c.355-4C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000269634]|not provided [RCV000965248]|not specified [RCV000151879] Chr12:100390997 [GRCh38]
Chr12:100784775 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg) single nucleotide variant not specified [RCV000151880] Chr12:100393442 [GRCh38]
Chr12:100787220 [GRCh37]
Chr12:12q23.1
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001113390]|not provided [RCV002517506]|not specified [RCV000217844] Chr12:100418135 [GRCh38]
Chr12:100811913 [GRCh37]
Chr12:12q23.1
likely benign|uncertain significance
NM_139319.3(SLC17A8):c.354+16T>C single nucleotide variant not provided [RCV001582889]|not specified [RCV000247233] Chr12:100380969 [GRCh38]
Chr12:100774747 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.*1521dup duplication Nonsyndromic Hearing Loss, Dominant [RCV000344089] Chr12:100421658..100421659 [GRCh38]
Chr12:100815436..100815437 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*39A>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000345750]|not provided [RCV001672463] Chr12:100420198 [GRCh38]
Chr12:100813976 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.*1506_*1507insG insertion Nonsyndromic Hearing Loss, Dominant [RCV000369496] Chr12:100421665..100421666 [GRCh38]
Chr12:100815443..100815444 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.*71T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000395766]|not provided [RCV001538779] Chr12:100420230 [GRCh38]
Chr12:100814008 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.-32T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000396555] Chr12:100357360 [GRCh38]
Chr12:100751138 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000265974]|Inborn genetic diseases [RCV002522216] Chr12:100380820 [GRCh38]
Chr12:100774598 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*507G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000371080] Chr12:100420666 [GRCh38]
Chr12:100814444 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000285016]|Inborn genetic diseases [RCV002520778] Chr12:100402707 [GRCh38]
Chr12:100796485 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1520_*1521dup duplication Nonsyndromic Hearing Loss, Dominant [RCV000349941] Chr12:100421658..100421659 [GRCh38]
Chr12:100815436..100815437 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000273450]|not provided [RCV003718169] Chr12:100396399 [GRCh38]
Chr12:100790177 [GRCh37]
Chr12:12q23.1
likely benign|uncertain significance
NM_139319.3(SLC17A8):c.*1513_*1521del deletion Nonsyndromic Hearing Loss, Dominant [RCV000290335] Chr12:100421659..100421667 [GRCh38]
Chr12:100815437..100815445 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*178G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000310413] Chr12:100420337 [GRCh38]
Chr12:100814115 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*534T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000276542] Chr12:100420693 [GRCh38]
Chr12:100814471 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.-218T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000293734]|not provided [RCV001672462] Chr12:100357174 [GRCh38]
Chr12:100750952 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.-88A>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000337331] Chr12:100357304 [GRCh38]
Chr12:100751082 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000338898] Chr12:100402605 [GRCh38]
Chr12:100796383 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000387621]|SLC17A8-related disorder [RCV003957589]|not provided [RCV000886186] Chr12:100401823 [GRCh38]
Chr12:100795601 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000279136] Chr12:100401862 [GRCh38]
Chr12:100795640 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1486A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000282829] Chr12:100421645 [GRCh38]
Chr12:100815423 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*817A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000371762] Chr12:100420976 [GRCh38]
Chr12:100814754 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000327044] Chr12:100393425 [GRCh38]
Chr12:100787203 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000398240]|not provided [RCV001799651] Chr12:100380717 [GRCh38]
Chr12:100774495 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1140T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000263100] Chr12:100421299 [GRCh38]
Chr12:100815077 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*335C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000275154] Chr12:100420494 [GRCh38]
Chr12:100814272 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.584T>C (p.Val195Ala) single nucleotide variant not provided [RCV000393723] Chr12:100393479 [GRCh38]
Chr12:100787257 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000358240]|not provided [RCV002056253] Chr12:100380809 [GRCh38]
Chr12:100774587 [GRCh37]
Chr12:12q23.1
likely benign|uncertain significance
NM_139319.3(SLC17A8):c.1690G>C (p.Gly564Arg) single nucleotide variant not provided [RCV000397167] Chr12:100420079 [GRCh38]
Chr12:100813857 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000339831]|Inborn genetic diseases [RCV004021529] Chr12:100402708 [GRCh38]
Chr12:100796486 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000388650]|not provided [RCV000734057]|not specified [RCV003235185] Chr12:100396379 [GRCh38]
Chr12:100790157 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1295T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000318288] Chr12:100421454 [GRCh38]
Chr12:100815232 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.1736A>T (p.Gln579Leu) single nucleotide variant not provided [RCV003159342] Chr12:100420125 [GRCh38]
Chr12:100813903 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.532G>A (p.Ala178Thr) single nucleotide variant not provided [RCV001548328] Chr12:100393427 [GRCh38]
Chr12:100787205 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000490397]|SLC17A8-related disorder [RCV003955246]|not provided [RCV001711988] Chr12:100404104 [GRCh38]
Chr12:100797882 [GRCh37]
Chr12:12q23.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139319.3(SLC17A8):c.*1502T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000314757] Chr12:100421661 [GRCh38]
Chr12:100815439 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.2(SLC17A8):c.*1913T>A single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000323944] Chr12:100422072 [GRCh38]
Chr12:100815850 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del) microsatellite Nonsyndromic Hearing Loss, Dominant [RCV000304875]|SLC17A8-related disorder [RCV003957590]|not provided [RCV001570770] Chr12:100420019..100420021 [GRCh38]
Chr12:100813797..100813799 [GRCh37]
Chr12:12q23.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139319.3(SLC17A8):c.*715A>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000317565] Chr12:100420874 [GRCh38]
Chr12:100814652 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*244G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000365060] Chr12:100420403 [GRCh38]
Chr12:100814181 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.354+7A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000366431] Chr12:100380960 [GRCh38]
Chr12:100774738 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000390800] Chr12:100412836 [GRCh38]
Chr12:100806614 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1496_*1497insT insertion Nonsyndromic Hearing Loss, Dominant [RCV000323840] Chr12:100421655..100421656 [GRCh38]
Chr12:100815433..100815434 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000374723] Chr12:100402650 [GRCh38]
Chr12:100796428 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1498_*1499insTT insertion Nonsyndromic Hearing Loss, Dominant [RCV000288640] Chr12:100421656..100421657 [GRCh38]
Chr12:100815434..100815435 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*357A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000311699] Chr12:100420516 [GRCh38]
Chr12:100814294 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1716C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000301086] Chr12:100421875 [GRCh38]
Chr12:100815653 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1306C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000377612] Chr12:100421465 [GRCh38]
Chr12:100815243 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1498dup duplication Nonsyndromic Hearing Loss, Dominant [RCV000378397] Chr12:100421656..100421657 [GRCh38]
Chr12:100815434..100815435 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1587A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000396375] Chr12:100421746 [GRCh38]
Chr12:100815524 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1501_*1502insGT insertion Nonsyndromic Hearing Loss, Dominant [RCV000396379] Chr12:100421659..100421660 [GRCh38]
Chr12:100815437..100815438 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.552C>T (p.Cys184=) single nucleotide variant not provided [RCV000592802] Chr12:100393447 [GRCh38]
Chr12:100787225 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.354+230A>T single nucleotide variant not provided [RCV001545207] Chr12:100381183 [GRCh38]
Chr12:100774961 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1559G>T (p.Cys520Phe) single nucleotide variant not provided [RCV000730845] Chr12:100419948 [GRCh38]
Chr12:100813726 [GRCh37]
Chr12:12q23.1
uncertain significance
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3 copy number gain See cases [RCV000445929] Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q23.1-23.2(chr12:100667424-101651880)x3 copy number gain See cases [RCV000510816] Chr12:100667424..101651880 [GRCh37]
Chr12:12q23.1-23.2
uncertain significance
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=) single nucleotide variant not provided [RCV000594299] Chr12:100419967 [GRCh38]
Chr12:100813745 [GRCh37]
Chr12:12q23.1
conflicting interpretations of pathogenicity|uncertain significance
NM_139319.3(SLC17A8):c.1015_1016delinsAA (p.Ala339Asn) indel not provided [RCV000595650] Chr12:100402707..100402708 [GRCh38]
Chr12:100796485..100796486 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV002498939]|not provided [RCV001698116] Chr12:100380831 [GRCh38]
Chr12:100774609 [GRCh37]
Chr12:12q23.1
likely benign
GRCh37/hg19 12q23.1(chr12:99725136-100857873)x3 copy number gain not provided [RCV000683458] Chr12:99725136..100857873 [GRCh37]
Chr12:12q23.1
uncertain significance
GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3 copy number gain not provided [RCV000683473] Chr12:96719383..101537641 [GRCh37]
Chr12:12q23.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3 copy number gain not provided [RCV000750524] Chr12:94881995..103635998 [GRCh37]
Chr12:12q22-23.2
pathogenic
NM_139319.3(SLC17A8):c.1187-159del deletion not provided [RCV001679117] Chr12:100412593 [GRCh38]
Chr12:100806371 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1187-127dup duplication not provided [RCV001708322] Chr12:100412633..100412634 [GRCh38]
Chr12:100806411..100806412 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114780] Chr12:100419834 [GRCh38]
Chr12:100813612 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114782]|not provided [RCV001729796] Chr12:100420034 [GRCh38]
Chr12:100813812 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.589-22C>T single nucleotide variant not provided [RCV001665277] Chr12:100396308 [GRCh38]
Chr12:100790086 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1128T>C (p.Tyr376=) single nucleotide variant not provided [RCV000924622] Chr12:100404112 [GRCh38]
Chr12:100797890 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.903+1G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV000779086] Chr12:100402480 [GRCh38]
Chr12:100796258 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1299T>A (p.Gly433=) single nucleotide variant not provided [RCV000973501] Chr12:100418030 [GRCh38]
Chr12:100811808 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1362C>T (p.Asn454=) single nucleotide variant not provided [RCV000841839] Chr12:100418093 [GRCh38]
Chr12:100811871 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.764-49C>T single nucleotide variant not provided [RCV000844337] Chr12:100402291 [GRCh38]
Chr12:100796069 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114667]|not provided [RCV001759880] Chr12:100380708 [GRCh38]
Chr12:100774486 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1839A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114896] Chr12:100421998 [GRCh38]
Chr12:100815776 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.389G>A (p.Gly130Asp) single nucleotide variant not provided [RCV000919032] Chr12:100391035 [GRCh38]
Chr12:100784813 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1054-46C>G single nucleotide variant not provided [RCV000844338] Chr12:100403992 [GRCh38]
Chr12:100797770 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.398A>G (p.His133Arg) single nucleotide variant not provided [RCV003315052] Chr12:100391044 [GRCh38]
Chr12:100784822 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1883T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114897] Chr12:100422042 [GRCh38]
Chr12:100815820 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.27_30del (p.Phe9fs) deletion not provided [RCV001008941] Chr12:100357418..100357421 [GRCh38]
Chr12:100751196..100751199 [GRCh37]
Chr12:12q23.1
likely pathogenic
GRCh37/hg19 12q23.1(chr12:100815231-100990942)x1 copy number loss not provided [RCV001006524] Chr12:100815231..100990942 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1223T>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001113484] Chr12:100421382 [GRCh38]
Chr12:100815160 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114668] Chr12:100380709 [GRCh38]
Chr12:100774487 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114669] Chr12:100380723 [GRCh38]
Chr12:100774501 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111386]|not provided [RCV001772327] Chr12:100402342 [GRCh38]
Chr12:100796120 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*542G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111492] Chr12:100420701 [GRCh38]
Chr12:100814479 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1077A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111494] Chr12:100421236 [GRCh38]
Chr12:100815014 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001109039] Chr12:100393461 [GRCh38]
Chr12:100787239 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.687A>C (p.Ala229=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001109040]|not provided [RCV002556131] Chr12:100401787 [GRCh38]
Chr12:100795565 [GRCh37]
Chr12:12q23.1
likely benign|uncertain significance
NM_139319.3(SLC17A8):c.*473T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001109148] Chr12:100420632 [GRCh38]
Chr12:100814410 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.*480C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001109149] Chr12:100420639 [GRCh38]
Chr12:100814417 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1095C>T (p.Ile365=) single nucleotide variant SLC17A8-related disorder [RCV003973756]|not provided [RCV003106508] Chr12:100404079 [GRCh38]
Chr12:100797857 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1187-10C>T single nucleotide variant SLC17A8-related disorder [RCV003910869]|not provided [RCV001549882] Chr12:100412760 [GRCh38]
Chr12:100806538 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.473+34A>G single nucleotide variant not provided [RCV001564303] Chr12:100391153 [GRCh38]
Chr12:100784931 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.588+192T>C single nucleotide variant not provided [RCV001550527] Chr12:100393675 [GRCh38]
Chr12:100787453 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1426-269dup duplication not provided [RCV001545329] Chr12:100419532..100419533 [GRCh38]
Chr12:100813310..100813311 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.474-197C>T single nucleotide variant not provided [RCV001695244] Chr12:100393172 [GRCh38]
Chr12:100786950 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.589-256T>C single nucleotide variant not provided [RCV001720883] Chr12:100396074 [GRCh38]
Chr12:100789852 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1426-106A>G single nucleotide variant not provided [RCV001716891] Chr12:100419709 [GRCh38]
Chr12:100813487 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1426-325G>A single nucleotide variant not provided [RCV001583567] Chr12:100419490 [GRCh38]
Chr12:100813268 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.17T>C (p.Phe6Ser) single nucleotide variant not provided [RCV001588586] Chr12:100357408 [GRCh38]
Chr12:100751186 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.676+183del deletion not provided [RCV001588653] Chr12:100396584 [GRCh38]
Chr12:100790362 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.*6G>C single nucleotide variant SLC17A8-related disorder [RCV003910882]|not provided [RCV001560874] Chr12:100420165 [GRCh38]
Chr12:100813943 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.589-173G>A single nucleotide variant not provided [RCV001557281] Chr12:100396157 [GRCh38]
Chr12:100789935 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.237T>C (p.Ala79=) single nucleotide variant not provided [RCV001577661] Chr12:100380836 [GRCh38]
Chr12:100774614 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1298-42T>G single nucleotide variant not provided [RCV001557675] Chr12:100417987 [GRCh38]
Chr12:100811765 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1689del (p.Gly564fs) deletion not provided [RCV001557781] Chr12:100420076 [GRCh38]
Chr12:100813854 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.473+329G>A single nucleotide variant not provided [RCV001587664] Chr12:100391448 [GRCh38]
Chr12:100785226 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1298-58A>C single nucleotide variant not provided [RCV001617498] Chr12:100417971 [GRCh38]
Chr12:100811749 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.677-244A>G single nucleotide variant not provided [RCV001618893] Chr12:100401533 [GRCh38]
Chr12:100795311 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.102-24C>A single nucleotide variant not provided [RCV001678008] Chr12:100380677 [GRCh38]
Chr12:100774455 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1426-100C>T single nucleotide variant not provided [RCV001588085] Chr12:100419715 [GRCh38]
Chr12:100813493 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.142C>T (p.Leu48=) single nucleotide variant not provided [RCV000906494] Chr12:100380741 [GRCh38]
Chr12:100774519 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.*209T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114783] Chr12:100420368 [GRCh38]
Chr12:100814146 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.676+183dup duplication not provided [RCV001530737] Chr12:100396583..100396584 [GRCh38]
Chr12:100790361..100790362 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.356C>G (p.Thr119Arg) single nucleotide variant not provided [RCV002469876] Chr12:100391002 [GRCh38]
Chr12:100784780 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.223C>T (p.Arg75Cys) single nucleotide variant Auditory neuropathy spectrum disorder [RCV003984870]|not provided [RCV003234257] Chr12:100380822 [GRCh38]
Chr12:100774600 [GRCh37]
Chr12:12q23.1
pathogenic|uncertain significance
NM_139319.3(SLC17A8):c.1178A>G (p.Asn393Ser) single nucleotide variant not provided [RCV003230203] Chr12:100404162 [GRCh38]
Chr12:100797940 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1426-269del deletion not provided [RCV001556461] Chr12:100419533 [GRCh38]
Chr12:100813311 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1187-258G>A single nucleotide variant not provided [RCV001536426] Chr12:100412512 [GRCh38]
Chr12:100806290 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.589-278G>C single nucleotide variant not provided [RCV001589535] Chr12:100396052 [GRCh38]
Chr12:100789830 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1425+23T>C single nucleotide variant not provided [RCV001616103] Chr12:100418179 [GRCh38]
Chr12:100811957 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.677-281C>T single nucleotide variant not provided [RCV001720888] Chr12:100401496 [GRCh38]
Chr12:100795274 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1054-331A>G single nucleotide variant not provided [RCV001596000] Chr12:100403707 [GRCh38]
Chr12:100797485 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.354+173C>G single nucleotide variant not provided [RCV001614935] Chr12:100381126 [GRCh38]
Chr12:100774904 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.763+58A>G single nucleotide variant not provided [RCV001649693] Chr12:100401921 [GRCh38]
Chr12:100795699 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.903+5G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111388] Chr12:100402484 [GRCh38]
Chr12:100796262 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*541G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111491] Chr12:100420700 [GRCh38]
Chr12:100814478 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*671C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111493] Chr12:100420830 [GRCh38]
Chr12:100814608 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1090A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111495] Chr12:100421249 [GRCh38]
Chr12:100815027 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.*540A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001109150] Chr12:100420699 [GRCh38]
Chr12:100814477 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.-246T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001113301] Chr12:100357146 [GRCh38]
Chr12:100750924 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.-72A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001113303] Chr12:100357320 [GRCh38]
Chr12:100751098 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.*1243A>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001113485] Chr12:100421402 [GRCh38]
Chr12:100815180 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.-311G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111288] Chr12:100357081 [GRCh38]
Chr12:100750859 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.-295C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001111289] Chr12:100357097 [GRCh38]
Chr12:100750875 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1187-159dup duplication not provided [RCV001682535] Chr12:100412592..100412593 [GRCh38]
Chr12:100806370..100806371 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.763+153A>G single nucleotide variant not provided [RCV001709817] Chr12:100402016 [GRCh38]
Chr12:100795794 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1298-80C>T single nucleotide variant not provided [RCV001710881] Chr12:100417949 [GRCh38]
Chr12:100811727 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.676+110T>A single nucleotide variant not provided [RCV001546305] Chr12:100396527 [GRCh38]
Chr12:100790305 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.474-300G>A single nucleotide variant not provided [RCV001537240] Chr12:100393069 [GRCh38]
Chr12:100786847 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.354+177CATCTCAG[4] microsatellite not provided [RCV001645594] Chr12:100381130..100381137 [GRCh38]
Chr12:100774908..100774915 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.-93A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001113302] Chr12:100357299 [GRCh38]
Chr12:100751077 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001113387]|Inborn genetic diseases [RCV003283981] Chr12:100404090 [GRCh38]
Chr12:100797868 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001113388] Chr12:100418062 [GRCh38]
Chr12:100811840 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114779]|Inborn genetic diseases [RCV003283983] Chr12:100419819 [GRCh38]
Chr12:100813597 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001114781] Chr12:100420008 [GRCh38]
Chr12:100813786 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.15A>G (p.Ala5=) single nucleotide variant not provided [RCV001580861] Chr12:100357406 [GRCh38]
Chr12:100751184 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_139319.3(SLC17A8):c.474-52T>C single nucleotide variant not provided [RCV001536899] Chr12:100393317 [GRCh38]
Chr12:100787095 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1262T>C (p.Val421Ala) single nucleotide variant not provided [RCV002284620] Chr12:100412845 [GRCh38]
Chr12:100806623 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.616dup (p.Met206fs) duplication Autosomal dominant nonsyndromic hearing loss 25 [RCV001391305] Chr12:100396356..100396357 [GRCh38]
Chr12:100790134..100790135 [GRCh37]
Chr12:12q23.1
pathogenic
NM_139319.3(SLC17A8):c.588+208T>C single nucleotide variant not provided [RCV001534292] Chr12:100393691 [GRCh38]
Chr12:100787469 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.102-310A>G single nucleotide variant not provided [RCV001610989] Chr12:100380391 [GRCh38]
Chr12:100774169 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1187-127del deletion not provided [RCV001581859] Chr12:100412634 [GRCh38]
Chr12:100806412 [GRCh37]
Chr12:12q23.1
likely benign
NC_000012.12:g.100356902C>A single nucleotide variant not provided [RCV001583462] Chr12:100356902 [GRCh38]
Chr12:100750680 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.473+2T>C single nucleotide variant not provided [RCV001540728] Chr12:100391121 [GRCh38]
Chr12:100784899 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1187-45C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001807421]|not provided [RCV001538544] Chr12:100412725 [GRCh38]
Chr12:100806503 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.243G>A (p.Met81Ile) single nucleotide variant not provided [RCV002248267] Chr12:100380842 [GRCh38]
Chr12:100774620 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.224G>A (p.Arg75His) single nucleotide variant not provided [RCV001754756] Chr12:100380823 [GRCh38]
Chr12:100774601 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.200G>A (p.Cys67Tyr) single nucleotide variant Inborn genetic diseases [RCV004047404]|not provided [RCV002259445] Chr12:100380799 [GRCh38]
Chr12:100774577 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.196G>A (p.Asp66Asn) single nucleotide variant not provided [RCV001760984] Chr12:100380795 [GRCh38]
Chr12:100774573 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.959T>C (p.Ile320Thr) single nucleotide variant not provided [RCV001751932] Chr12:100402651 [GRCh38]
Chr12:100796429 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.842A>G (p.Asn281Ser) single nucleotide variant not provided [RCV001768840] Chr12:100402418 [GRCh38]
Chr12:100796196 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1213C>G (p.Leu405Val) single nucleotide variant not provided [RCV001774340] Chr12:100412796 [GRCh38]
Chr12:100806574 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV001799521] Chr12:100396375 [GRCh38]
Chr12:100790153 [GRCh37]
Chr12:12q23.1
likely pathogenic
NM_139319.3(SLC17A8):c.547G>C (p.Gly183Arg) single nucleotide variant not provided [RCV001757275] Chr12:100393442 [GRCh38]
Chr12:100787220 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1493A>G (p.Tyr498Cys) single nucleotide variant not provided [RCV001758832] Chr12:100419882 [GRCh38]
Chr12:100813660 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1157C>T (p.Thr386Ile) single nucleotide variant not provided [RCV001779673] Chr12:100404141 [GRCh38]
Chr12:100797919 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.485C>T (p.Ala162Val) single nucleotide variant not provided [RCV001914952] Chr12:100393380 [GRCh38]
Chr12:100787158 [GRCh37]
Chr12:12q23.1
uncertain significance
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075) copy number gain not specified [RCV002053014] Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3
uncertain significance
NM_139319.3(SLC17A8):c.737G>C (p.Gly246Ala) single nucleotide variant not provided [RCV001823403] Chr12:100401837 [GRCh38]
Chr12:100795615 [GRCh37]
Chr12:12q23.1
uncertain significance
GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075) copy number loss not specified [RCV002053013] Chr12:100564593..103021075 [GRCh37]
Chr12:12q23.1-23.2
uncertain significance
NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV002479430]|not provided [RCV001914176] Chr12:100418061 [GRCh38]
Chr12:100811839 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 25 [RCV003136322]|not provided [RCV001926955] Chr12:100418052 [GRCh38]
Chr12:100811830 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1615T>G (p.Phe539Val) single nucleotide variant not provided [RCV001908244] Chr12:100420004 [GRCh38]
Chr12:100813782 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1297+4dup duplication not provided [RCV001887182] Chr12:100412882..100412883 [GRCh38]
Chr12:100806660..100806661 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.29A>G (p.Lys10Arg) single nucleotide variant Inborn genetic diseases [RCV004045512]|not provided [RCV001992151] Chr12:100357420 [GRCh38]
Chr12:100751198 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1242_1243del (p.Val415fs) deletion not provided [RCV002029810] Chr12:100412823..100412824 [GRCh38]
Chr12:100806601..100806602 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.161C>T (p.Pro54Leu) single nucleotide variant not provided [RCV001957682] Chr12:100380760 [GRCh38]
Chr12:100774538 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1264C>T (p.Leu422Phe) single nucleotide variant not provided [RCV001879298] Chr12:100412847 [GRCh38]
Chr12:100806625 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1097T>C (p.Val366Ala) single nucleotide variant not provided [RCV001877188] Chr12:100404081 [GRCh38]
Chr12:100797859 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.473+16A>G single nucleotide variant not provided [RCV002013448] Chr12:100391135 [GRCh38]
Chr12:100784913 [GRCh37]
Chr12:12q23.1
likely benign|uncertain significance
NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys) single nucleotide variant SLC17A8-related disorder [RCV003971110]|not provided [RCV002148934] Chr12:100419926 [GRCh38]
Chr12:100813704 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.473+13G>A single nucleotide variant not provided [RCV002146523] Chr12:100391132 [GRCh38]
Chr12:100784910 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.473+17T>C single nucleotide variant not provided [RCV002126347] Chr12:100391136 [GRCh38]
Chr12:100784914 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.102-18A>G single nucleotide variant not provided [RCV002138131] Chr12:100380683 [GRCh38]
Chr12:100774461 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1425+11C>A single nucleotide variant not provided [RCV002143103] Chr12:100418167 [GRCh38]
Chr12:100811945 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.474-3dup duplication not provided [RCV002204318] Chr12:100393361..100393362 [GRCh38]
Chr12:100787139..100787140 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.27C>T (p.Phe9=) single nucleotide variant not provided [RCV002102370] Chr12:100357418 [GRCh38]
Chr12:100751196 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.211G>A (p.Gly71Ser) single nucleotide variant not provided [RCV003123224] Chr12:100380810 [GRCh38]
Chr12:100774588 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.664A>T (p.Thr222Ser) single nucleotide variant not provided [RCV002273684] Chr12:100396405 [GRCh38]
Chr12:100790183 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.886A>T (p.Asn296Tyr) single nucleotide variant Inborn genetic diseases [RCV003282634] Chr12:100402462 [GRCh38]
Chr12:100796240 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1187-3C>T single nucleotide variant not provided [RCV002464940] Chr12:100412767 [GRCh38]
Chr12:100806545 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.356C>T (p.Thr119Ile) single nucleotide variant not provided [RCV002305891] Chr12:100391002 [GRCh38]
Chr12:100784780 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1666G>A (p.Glu556Lys) single nucleotide variant Inborn genetic diseases [RCV002752150] Chr12:100420055 [GRCh38]
Chr12:100813833 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.591T>C (p.Gly197=) single nucleotide variant not provided [RCV003013833] Chr12:100396332 [GRCh38]
Chr12:100790110 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1298-5T>A single nucleotide variant not provided [RCV002511741] Chr12:100418024 [GRCh38]
Chr12:100811802 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.766A>T (p.Met256Leu) single nucleotide variant not provided [RCV002820116] Chr12:100402342 [GRCh38]
Chr12:100796120 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.676+3G>A single nucleotide variant not provided [RCV002617702] Chr12:100396420 [GRCh38]
Chr12:100790198 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1298-17T>A single nucleotide variant not provided [RCV002771295] Chr12:100418012 [GRCh38]
Chr12:100811790 [GRCh37]
Chr12:12q23.1
benign
NM_139319.3(SLC17A8):c.1385T>C (p.Met462Thr) single nucleotide variant Inborn genetic diseases [RCV002777637] Chr12:100418116 [GRCh38]
Chr12:100811894 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.635C>G (p.Pro212Arg) single nucleotide variant Inborn genetic diseases [RCV002736955] Chr12:100396376 [GRCh38]
Chr12:100790154 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1662T>C (p.Asn554=) single nucleotide variant not provided [RCV002867401] Chr12:100420051 [GRCh38]
Chr12:100813829 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1429C>T (p.Arg477Cys) single nucleotide variant Inborn genetic diseases [RCV002758568] Chr12:100419818 [GRCh38]
Chr12:100813596 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1211T>C (p.Leu404Pro) single nucleotide variant SLC17A8-related disorder [RCV003953917]|not provided [RCV002619367] Chr12:100412794 [GRCh38]
Chr12:100806572 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1220T>C (p.Val407Ala) single nucleotide variant not provided [RCV002735134] Chr12:100412803 [GRCh38]
Chr12:100806581 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1304A>G (p.Asn435Ser) single nucleotide variant Inborn genetic diseases [RCV002868915] Chr12:100418035 [GRCh38]
Chr12:100811813 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.81T>G (p.Asp27Glu) single nucleotide variant Inborn genetic diseases [RCV002821236] Chr12:100357472 [GRCh38]
Chr12:100751250 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.474-14C>A single nucleotide variant not provided [RCV002790896] Chr12:100393355 [GRCh38]
Chr12:100787133 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1054-1G>C single nucleotide variant not provided [RCV002626435] Chr12:100404037 [GRCh38]
Chr12:100797815 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.331G>A (p.Val111Ile) single nucleotide variant not provided [RCV002623895] Chr12:100380930 [GRCh38]
Chr12:100774708 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.183C>G (p.Ser61Arg) single nucleotide variant not provided [RCV002623716]|not specified [RCV003331440] Chr12:100380782 [GRCh38]
Chr12:100774560 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.765C>T (p.Gly255=) single nucleotide variant SLC17A8-related disorder [RCV003916553]|not provided [RCV002893853] Chr12:100402341 [GRCh38]
Chr12:100796119 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.443G>C (p.Gly148Ala) single nucleotide variant not provided [RCV002835114] Chr12:100391089 [GRCh38]
Chr12:100784867 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.676+9A>G single nucleotide variant not provided [RCV002835049] Chr12:100396426 [GRCh38]
Chr12:100790204 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1353G>C (p.Gly451=) single nucleotide variant not provided [RCV002966371] Chr12:100418084 [GRCh38]
Chr12:100811862 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1229C>T (p.Ser410Leu) single nucleotide variant Inborn genetic diseases [RCV002942576]|not provided [RCV002938994] Chr12:100412812 [GRCh38]
Chr12:100806590 [GRCh37]
Chr12:12q23.1
likely benign|uncertain significance
NM_139319.3(SLC17A8):c.677-18_677-15del deletion not provided [RCV002581515] Chr12:100401757..100401760 [GRCh38]
Chr12:100795535..100795538 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.223C>A (p.Arg75Ser) single nucleotide variant Inborn genetic diseases [RCV002679058] Chr12:100380822 [GRCh38]
Chr12:100774600 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1426-18C>A single nucleotide variant not provided [RCV002608372]|not specified [RCV003155484] Chr12:100419797 [GRCh38]
Chr12:100813575 [GRCh37]
Chr12:12q23.1
likely benign|uncertain significance
NM_139319.3(SLC17A8):c.944C>T (p.Pro315Leu) single nucleotide variant not provided [RCV002606277] Chr12:100402636 [GRCh38]
Chr12:100796414 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1053+8C>T single nucleotide variant not provided [RCV002610545] Chr12:100402753 [GRCh38]
Chr12:100796531 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.188C>G (p.Pro63Arg) single nucleotide variant not provided [RCV002588158] Chr12:100380787 [GRCh38]
Chr12:100774565 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.349A>G (p.Ile117Val) single nucleotide variant Inborn genetic diseases [RCV003280802] Chr12:100380948 [GRCh38]
Chr12:100774726 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1486A>T (p.Ile496Phe) single nucleotide variant Inborn genetic diseases [RCV003279895] Chr12:100419875 [GRCh38]
Chr12:100813653 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1327C>G (p.Pro443Ala) single nucleotide variant Inborn genetic diseases [RCV003200750] Chr12:100418058 [GRCh38]
Chr12:100811836 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.832A>G (p.Thr278Ala) single nucleotide variant Inborn genetic diseases [RCV003286883] Chr12:100402408 [GRCh38]
Chr12:100796186 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.320G>A (p.Ser107Asn) single nucleotide variant Inborn genetic diseases [RCV003204062] Chr12:100380919 [GRCh38]
Chr12:100774697 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1744G>A (p.Glu582Lys) single nucleotide variant Inborn genetic diseases [RCV003207410] Chr12:100420133 [GRCh38]
Chr12:100813911 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.344C>T (p.Pro115Leu) single nucleotide variant Inborn genetic diseases [RCV003206061]|not provided [RCV003779725] Chr12:100380943 [GRCh38]
Chr12:100774721 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.285T>A (p.Asn95Lys) single nucleotide variant Inborn genetic diseases [RCV003372317] Chr12:100380884 [GRCh38]
Chr12:100774662 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.733A>G (p.Ile245Val) single nucleotide variant Inborn genetic diseases [RCV003377059] Chr12:100401833 [GRCh38]
Chr12:100795611 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.573G>T (p.Leu191=) single nucleotide variant not provided [RCV003390282] Chr12:100393468 [GRCh38]
Chr12:100787246 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1565T>G (p.Ile522Ser) single nucleotide variant not provided [RCV003390283] Chr12:100419954 [GRCh38]
Chr12:100813732 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1151C>T (p.Thr384Ile) single nucleotide variant SLC17A8-related disorder [RCV003422479] Chr12:100404135 [GRCh38]
Chr12:100797913 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.504G>A (p.Ser168=) single nucleotide variant not provided [RCV003391953] Chr12:100393399 [GRCh38]
Chr12:100787177 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs) duplication Autosomal dominant nonsyndromic hearing loss 25 [RCV003455818]|not provided [RCV003443710] Chr12:100418055..100418056 [GRCh38]
Chr12:100811833..100811834 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.743C>T (p.Ser248Phe) single nucleotide variant not provided [RCV003443942] Chr12:100401843 [GRCh38]
Chr12:100795621 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1298-4G>A single nucleotide variant not provided [RCV003739926] Chr12:100418025 [GRCh38]
Chr12:100811803 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.162G>A (p.Pro54=) single nucleotide variant not provided [RCV003578555] Chr12:100380761 [GRCh38]
Chr12:100774539 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.785A>C (p.Tyr262Ser) single nucleotide variant not provided [RCV003694748] Chr12:100402361 [GRCh38]
Chr12:100796139 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.945G>A (p.Pro315=) single nucleotide variant not provided [RCV003545448] Chr12:100402637 [GRCh38]
Chr12:100796415 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.589-17T>C single nucleotide variant not provided [RCV003881253] Chr12:100396313 [GRCh38]
Chr12:100790091 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1400T>C (p.Ile467Thr) single nucleotide variant not provided [RCV003557759] Chr12:100418131 [GRCh38]
Chr12:100811909 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.830C>T (p.Pro277Leu) single nucleotide variant not provided [RCV003839650] Chr12:100402406 [GRCh38]
Chr12:100796184 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1116A>G (p.Gln372=) single nucleotide variant not provided [RCV003855070] Chr12:100404100 [GRCh38]
Chr12:100797878 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.330T>C (p.Tyr110=) single nucleotide variant not provided [RCV003814294] Chr12:100380929 [GRCh38]
Chr12:100774707 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.102-5T>C single nucleotide variant not provided [RCV003815970] Chr12:100380696 [GRCh38]
Chr12:100774474 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.322A>G (p.Thr108Ala) single nucleotide variant not provided [RCV003551343] Chr12:100380921 [GRCh38]
Chr12:100774699 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.474-5C>A single nucleotide variant not provided [RCV003864143] Chr12:100393364 [GRCh38]
Chr12:100787142 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.173C>T (p.Ser58Phe) single nucleotide variant not provided [RCV003820828] Chr12:100380772 [GRCh38]
Chr12:100774550 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.903+9A>G single nucleotide variant not provided [RCV003722392] Chr12:100402488 [GRCh38]
Chr12:100796266 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.603A>G (p.Pro201=) single nucleotide variant not provided [RCV003864581] Chr12:100396344 [GRCh38]
Chr12:100790122 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.187C>G (p.Pro63Ala) single nucleotide variant not provided [RCV003676815] Chr12:100380786 [GRCh38]
Chr12:100774564 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.60A>T (p.Gly20=) single nucleotide variant not provided [RCV003707265] Chr12:100357451 [GRCh38]
Chr12:100751229 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1652C>T (p.Thr551Ile) single nucleotide variant not provided [RCV003862649] Chr12:100420041 [GRCh38]
Chr12:100813819 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1640C>G (p.Ser547Cys) single nucleotide variant not provided [RCV003842447] Chr12:100420029 [GRCh38]
Chr12:100813807 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.676+8T>C single nucleotide variant not provided [RCV003709681] Chr12:100396425 [GRCh38]
Chr12:100790203 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.235G>A (p.Ala79Thr) single nucleotide variant not provided [RCV003550787] Chr12:100380834 [GRCh38]
Chr12:100774612 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1068A>G (p.Ser356=) single nucleotide variant SLC17A8-related disorder [RCV003899380] Chr12:100404052 [GRCh38]
Chr12:100797830 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1707C>A (p.Thr569=) single nucleotide variant not provided [RCV003887546] Chr12:100420096 [GRCh38]
Chr12:100813874 [GRCh37]
Chr12:12q23.1
likely benign
NM_139319.3(SLC17A8):c.1363G>A (p.Gly455Arg) single nucleotide variant Inborn genetic diseases [RCV004448588] Chr12:100418094 [GRCh38]
Chr12:100811872 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.262A>G (p.Ile88Val) single nucleotide variant Inborn genetic diseases [RCV004448591] Chr12:100380861 [GRCh38]
Chr12:100774639 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.1600C>T (p.Leu534Phe) single nucleotide variant Inborn genetic diseases [RCV004448590] Chr12:100419989 [GRCh38]
Chr12:100813767 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_139319.3(SLC17A8):c.903+1_903+6del deletion Autosomal dominant nonsyndromic hearing loss 25 [RCV003991300] Chr12:100402475..100402480 [GRCh38]
Chr12:100796253..100796258 [GRCh37]
Chr12:12q23.1
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:974
Count of miRNA genes:568
Interacting mature miRNAs:642
Transcripts:ENST00000323346, ENST00000392989, ENST00000547922, ENST00000552697
Prediction methods:Microtar, 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
D12S1030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712102,924,807 - 102,925,065UniSTSGRCh37
Build 3612101,448,937 - 101,449,195RGDNCBI36
Celera12102,588,759 - 102,589,013RGD
Cytogenetic Map12q23.1UniSTS
HuRef1299,984,438 - 99,984,688UniSTS
Marshfield Genetic Map12109.47RGD
Marshfield Genetic Map12109.47UniSTS
deCODE Assembly Map12114.24UniSTS
Whitehead-YAC Contig Map12 UniSTS
G64831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,763,196 - 100,763,275UniSTSGRCh37
Build 361299,287,327 - 99,287,406RGDNCBI36
Celera12100,428,460 - 100,428,539RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,824,244 - 97,824,323UniSTS
G64829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,763,198 - 100,763,402UniSTSGRCh37
Build 361299,287,329 - 99,287,533RGDNCBI36
Celera12100,428,462 - 100,428,666RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,824,246 - 97,824,450UniSTS
SHGC-110863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,811,806 - 100,812,128UniSTSGRCh37
Build 361299,335,937 - 99,336,259RGDNCBI36
Celera12100,477,074 - 100,477,396RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,872,873 - 97,873,195UniSTS
TNG Radiation Hybrid Map1249813.0UniSTS
G10266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,774,236 - 100,774,476UniSTSGRCh37
Build 361299,298,367 - 99,298,607RGDNCBI36
Celera12100,439,517 - 100,439,757RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,835,285 - 97,835,525UniSTS
SHGC-145725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,767,905 - 100,768,117UniSTSGRCh37
Build 361299,292,036 - 99,292,248RGDNCBI36
Celera12100,433,169 - 100,433,381RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,828,953 - 97,829,165UniSTS
TNG Radiation Hybrid Map1249766.0UniSTS
SLC17A8_1283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,815,187 - 100,816,018UniSTSGRCh37
Build 361299,339,318 - 99,340,149RGDNCBI36
Celera12100,480,455 - 100,481,287RGD
HuRef1297,876,254 - 97,877,076UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 52 1 1 50 1 4 14 1 3
Low 220 9 53 36 77 36 3 14 1065 35 56 29 1 1 2
Below cutoff 866 794 867 351 441 310 1400 508 1907 169 732 516 43 316 837 2

Sequence


RefSeq Acc Id: ENST00000323346   ⟹   ENSP00000316909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,357,074 - 100,422,055 (+)Ensembl
RefSeq Acc Id: ENST00000392989   ⟹   ENSP00000376715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,357,368 - 100,420,252 (+)Ensembl
RefSeq Acc Id: ENST00000547922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,402,618 - 100,404,380 (+)Ensembl
RefSeq Acc Id: ENST00000552697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,410,621 - 100,420,089 (+)Ensembl
RefSeq Acc Id: NM_001145288   ⟹   NP_001138760
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,357,074 - 100,422,055 (+)NCBI
GRCh3712100,750,857 - 100,815,837 (+)ENTREZGENE
HuRef1297,811,908 - 97,876,895 (+)ENTREZGENE
CHM1_112100,716,885 - 100,781,879 (+)NCBI
T2T-CHM13v2.012100,318,500 - 100,383,494 (+)NCBI
Sequence:
RefSeq Acc Id: NM_139319   ⟹   NP_647480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,357,074 - 100,422,055 (+)NCBI
GRCh3712100,750,857 - 100,815,837 (+)ENTREZGENE
Build 361299,275,125 - 99,339,968 (+)NCBI Archive
HuRef1297,811,908 - 97,876,895 (+)ENTREZGENE
CHM1_112100,716,885 - 100,781,879 (+)NCBI
T2T-CHM13v2.012100,318,500 - 100,383,494 (+)NCBI
Sequence:
RefSeq Acc Id: NP_647480   ⟸   NM_139319
- Peptide Label: isoform 1
- UniProtKB: B7ZKV4 (UniProtKB/Swiss-Prot),   B3KXZ6 (UniProtKB/Swiss-Prot),   Q17RQ8 (UniProtKB/Swiss-Prot),   Q8NDX2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138760   ⟸   NM_001145288
- Peptide Label: isoform 2
- UniProtKB: Q8NDX2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000316909   ⟸   ENST00000323346
RefSeq Acc Id: ENSP00000376715   ⟸   ENST00000392989

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NDX2-F1-model_v2 AlphaFold Q8NDX2 1-589 view protein structure

Promoters
RGD ID:7225149
Promoter ID:EPDNEW_H18320
Type:initiation region
Name:SLC17A8_1
Description:solute carrier family 17 member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,357,074 - 100,357,134EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20151 AgrOrtholog
COSMIC SLC17A8 COSMIC
Ensembl Genes ENSG00000179520 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000323346 ENTREZGENE
  ENST00000323346.10 UniProtKB/Swiss-Prot
  ENST00000392989 ENTREZGENE
  ENST00000392989.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot
GTEx ENSG00000179520 GTEx
HGNC ID HGNC:20151 ENTREZGENE
Human Proteome Map SLC17A8 Human Proteome Map
InterPro MFS UniProtKB/Swiss-Prot
  MFS_dom UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot
KEGG Report hsa:246213 UniProtKB/Swiss-Prot
NCBI Gene 246213 ENTREZGENE
OMIM 607557 OMIM
PANTHER SOLUTE CARRIER FAMILY 17 UniProtKB/Swiss-Prot
  VESICULAR GLUTAMATE TRANSPORTER 3 UniProtKB/Swiss-Prot
Pfam MFS_1 UniProtKB/Swiss-Prot
PharmGKB PA223010 PharmGKB
PROSITE MFS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot
UniProt B3KXZ6 ENTREZGENE
  B7ZKV4 ENTREZGENE
  Q17RQ8 ENTREZGENE
  Q8NDX2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KXZ6 UniProtKB/Swiss-Prot
  B7ZKV4 UniProtKB/Swiss-Prot
  Q17RQ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-23 SLC17A8  solute carrier family 17 member 8  DFNA25  deafness, autosomal dominant 25  Data merged from RGD:1347485 737654 PROVISIONAL
2016-02-23 SLC17A8  solute carrier family 17 member 8    solute carrier family 17 (vesicular glutamate transporter), member 8  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC17A8  solute carrier family 17 (vesicular glutamate transporter), member 8    solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8  Symbol and/or name change 5135510 APPROVED