RGD:28888906 Rat Genome Database

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Variant: RGD:28888906 -  Homo sapiens

RGD ID: 28888906
RS ID: rs533182215
ClinVar ID: CV903176
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,444,852
GRCh38 X 71,225,002
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001097642.3:c.*443G>A
NM_000166.5:c.*443G>A
NC_000023.11:g.71225002G>A
LRG_245:g.14791G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Charcot-Marie-Tooth Neuropathy X Type 1; CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; CMTX 1; X-linked Charcot-Marie-Tooth disease type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:XM_011530907
Location:3UTRS;EXON

Gene Symbol:GJB1
Accession:NM_001097642
Location:3UTRS;EXON

Gene Symbol:GJB1
Accession:NM_000166
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001169762 CLINVAR
dbSNP (RS) rs533182215 CLINVAR
MedGen C0393808 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 302800 CLINVAR
  304040 CLINVAR