RGD:8607561 Rat Genome Database

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Variant: RGD:8607561 -  Homo sapiens

RGD ID: 8607561
RS ID: rs397516868
ClinVar ID: CV53887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,766,944
GRCh38 13 20,192,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008358.1:g.5171C>A
NC_000013.11:g.20192805G>T
NC_000013.10:g.20766944G>T
c.-45C>A
More... 		06/02/2023 5 prime utr variant|utr-5 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance infancy|neonatal <1 / 1 000 000 AllHighlyPenetrant; Connexin 26 deafness; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; none provided; Nonsyndromic Hearing Loss and Deafness, DFNB1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:NM_004004
Location:5UTRS;EXON

Gene Symbol:GJB2
Accession:XM_011535049
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:16773579   PMID:22567369   PMID:22567861   PMID:24033266   PMID:25214170   PMID:25741868   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037808 CLINVAR
  RCV000375249 CLINVAR
  RCV001727531 CLINVAR
dbSNP (RS) rs397516868 CLINVAR
MedGen C2673759 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR
  220290 CLINVAR