RGD:11660063 Rat Genome Database

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Variant: RGD:11660063 -  Homo sapiens

RGD ID: 11660063
RS ID: rs1057515476
ClinVar ID: CV280751
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 35,247,022
GRCh38 1 34,781,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008309.1:g.5233G>A
NC_000001.11:g.34781421G>A
NC_000001.10:g.35247022G>A
NM_024009.3:c.-383G>A
More... 		06/14/2016 2kb upstream variant|5 prime utr variant uncertain significance infancy ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES; ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS; ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB3
Accession:NM_024009
Location:5UTRS;EXON

Gene Symbol:GJB3
Accession:NM_001005752
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000363945 CLINVAR
dbSNP (RS) rs1057515476 CLINVAR
MedGen C4551486 CLINVAR
NCBI Gene GJB3 CLINVAR
OMIM 133200 CLINVAR
  603324 CLINVAR