RGD:10409425 Rat Genome Database

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Variant: RGD:10409425 -  Homo sapiens

RGD ID: 10409425
RS ID: rs201993978
ClinVar ID: CV211058
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 6,303,155
GRCh38 4 6,301,428
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.1633G>A
NG_011700.1:g.36579G>A
NC_000004.12:g.6301428G>A
NC_000004.11:g.6303155G>A
More...
10/31/2018 missense variant uncertain significance AllHighlyPenetrant; Autosomal dominant nonsyndromic deafness 6; Autosomal dominant nonsyndromic hearing loss 6; CATARACT 41, CONGENITAL NUCLEAR TYPE; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION; none provided; Type 2 diabetes mellitus; Type II diabetes mellitus; WFS1-Related Disorders; WFS1-Related Low-Frequency Sensory Hearing Loss; WOLFRAM SYNDROME 1; Wolfram-like syndrome; Wolfram-like syndrome, autosomal dominant
Disease Annotations     Click to see Annotation Detail View
cataract 41  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:WFS1
Accession:NM_006005
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 545
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPT
KGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENE
REVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKN
YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIP
THHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWN
HLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY
LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSMVILLESTGLGLLRAS
IGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWL
TAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI
NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTK
DIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFD
FFFFPFLSAA*

Gene Symbol:WFS1
Accession:NM_001145853
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 545
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPT
KGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENE
REVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKN
YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIP
THHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWN
HLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY
LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSMVILLESTGLGLLRAS
IGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWL
TAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI
NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTK
DIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFD
FFFFPFLSAA*

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532   PMID:29563951  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000196092 CLINVAR
  RCV000732082 CLINVAR
  RCV000765783 CLINVAR
dbSNP (RS) rs201993978 CLINVAR
MedGen C3661900 CLINVAR
  C3805412 CLINVAR
  CN169374 CLINVAR
NCBI Gene WFS1 CLINVAR
OMIM 116400 CLINVAR
  125853 CLINVAR
  222300 CLINVAR
  600965 CLINVAR
  606201 CLINVAR
  614296 CLINVAR
SNOMED CT 44054006 CLINVAR