RGD:28891070 Rat Genome Database

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Variant: RGD:28891070 -  Homo sapiens

RGD ID: 28891070
RS ID: rs1640104946
ClinVar ID: CV864328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 35,251,348
GRCh38 1 34,785,747
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005752.2:c.*172G>A
NM_024009.3:c.*172G>A
NG_008309.1:g.9559G>A
NC_000001.10:g.35251348G>A
More... 		04/27/2017 3 prime utr variant uncertain significance 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_001005752
Location:3UTRS;EXON

Gene Symbol:GJB3
Accession:NM_024009
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001100033 CLINVAR
dbSNP (RS) rs1640104946 CLINVAR
MedGen C4551486 CLINVAR
NCBI Gene GJB3 CLINVAR
OMIM 133200 CLINVAR
  603324 CLINVAR