RGD:8691650 Rat Genome Database

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Variant: RGD:8691650 -  Homo sapiens

RGD ID: 8691650
RS ID: rs146132083
ClinVar ID: CV141617
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 6,303,119
GRCh38 4 6,301,392
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006005.3:c.1597C>T
NG_011700.1:g.36543C>T
NC_000004.12:g.6301392C>T
NC_000004.11:g.6303119C>T
More... 		10/25/2023 missense variant likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records AllHighlyPenetrant; Autosomal dominant nonsyndromic deafness 6; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss; none provided; WFS1-Related Disorders; WFS1-Related Low-Frequency Sensory Hearing Loss
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WFS1
Accession:NM_006005
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPT
KGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENE
REVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKN
YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIP
THHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWN
HLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY
LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVSYLVCFMWCELSVVILLESTGLGLLRAS
IGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWL
TAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI
NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTK
DIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFD
FFFFPFLSAA*

Gene Symbol:WFS1
Accession:NM_001145853
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPT
KGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENE
REVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKN
YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIP
THHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWN
HLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY
LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVSYLVCFMWCELSVVILLESTGLGLLRAS
IGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWL
TAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI
NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTK
DIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFD
FFFFPFLSAA*
Variant Samples
Additional References at PubMed
PMID:11920861   PMID:24033266   PMID:24875298   PMID:25741868   PMID:26875006   PMID:28432734   PMID:28492532   PMID:30180840   PMID:31264968   PMID:31765440   PMID:33841295   PMID:35469785  
PMID:35472603  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155342 CLINVAR
  RCV000664090 CLINVAR
  RCV000724541 CLINVAR
  RCV001151986 CLINVAR
  RCV001151987 CLINVAR
  RCV002514675 CLINVAR
  RCV003398744 CLINVAR
dbSNP (RS) rs146132083 CLINVAR
MedGen C0950123 CLINVAR
  C1833021 CLINVAR
  C3661900 CLINVAR
  C3888631 CLINVAR
  CN169374 CLINVAR
  CN239410 CLINVAR
NCBI Gene WFS1 CLINVAR
OMIM 600965 CLINVAR
  606201 CLINVAR