RGD:14700126 Rat Genome Database

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Variant: RGD:14700126 -  Homo sapiens

RGD ID: 14700126
RS ID: rs1602348508
ClinVar ID: CV625772
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 70,443,539
GRCh38 X 71,223,689
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_245:g.13478C>G
NC_000023.11:g.71223689C>G
NM_000166.6:c.-16-3C>G
NG_008357.1:g.13478C>G
More... 		intron variant uncertain significance Charcot-Marie-Tooth Neuropathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:NM_001097642
Location:5UTRS;INTRON

Gene Symbol:GJB1
Accession:NM_000166
Location:5UTRS;INTRON

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

Variant Samples
Additional References at PubMed
PMID:21149811  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000789809 CLINVAR
dbSNP (RS) rs1602348508 CLINVAR
MedGen C0007959 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 304040 CLINVAR
SNOMED CT 50548001 CLINVAR