RGD:12839180 Rat Genome Database

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Variant: RGD:12839180 -  Homo sapiens

RGD ID: 12839180
RS ID: rs190676487
ClinVar ID: CV378612
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,443,125
GRCh38 X 71,223,275
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_245:g.13064G>A
NG_008357.1:g.13064G>A
NC_000023.11:g.71223275G>A
NC_000023.10:g.70443125G>A
More... 		12/22/2016 5 prime utr variant|intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:NM_000166
Location:5UTRS;EXON

Gene Symbol:GJB1
Accession:NM_001097642
Location:5UTRS;INTRON

Gene Symbol:GJB1
Accession:XM_011530907
Location:5UTRS;INTRON

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000428344 CLINVAR
dbSNP (RS) rs190676487 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 304040 CLINVAR