rs1640008053 Rat Genome Database

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Variant: rs1640008053 -  Homo sapiens

RGD ID: 28885488
RS ID: rs1640008053
ClinVar ID: CV864313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 35,247,120
GRCh38 1 34,781,519
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_024009.3:c.-285C>A
NG_008309.1:g.5331C>A
NC_000001.11:g.34781519C>A
NC_000001.10:g.35247120C>A
More... 		01/13/2018 5 prime utr variant uncertain significance ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES; ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS; ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV864313Humanerythrokeratodermia variabilis et progressiva 1  IAGP 8554872ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1ClinVar 
Gene Symbol:GJB3
Accession:NM_024009
Location:5UTRS;EXON

Gene Symbol:GJB3
Accession:NM_001005752
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV001098152 CLINVAR
dbSNP (RS) rs1640008053 CLINVAR
MedGen C4551486 CLINVAR
NCBI Gene GJB3 CLINVAR
OMIM 133200 CLINVAR
  603324 CLINVAR