RGD:8691657 Rat Genome Database

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Variant: RGD:8691657 -  Homo sapiens

RGD ID: 8691657
RS ID: rs547998667
ClinVar ID: CV141624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 6,271,752
GRCh38 4 6,270,025
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.-6+11C>T
NG_011700.1:g.5176C>T
NC_000004.12:g.6270025C>T
NC_000004.11:g.6271752C>T
More... 		01/13/2018 intron variant benign|likely benign 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; 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_001145853
Location:5UTRS;INTRON

Gene Symbol:WFS1
Accession:NM_006005
Location:5UTRS;INTRON

Variant Samples
Additional References at PubMed
PMID:12955714   PMID:17603484   PMID:18060660   PMID:20301750   PMID:20738327   PMID:33879153  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000126334 CLINVAR
  RCV001154415 CLINVAR
  RCV001154416 CLINVAR
  RCV002472309 CLINVAR
dbSNP (RS) rs547998667 CLINVAR
MedGen C1833021 CLINVAR
  C4551693 CLINVAR
  CN169374 CLINVAR
  CN239410 CLINVAR
NCBI Gene WFS1 CLINVAR
OMIM 222300 CLINVAR
  600965 CLINVAR
  606201 CLINVAR