rs1015503523 Rat Genome Database

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Variant: rs1015503523 -  Homo sapiens

RGD ID: 11651915
RS ID: rs1015503523
ClinVar ID: CV282344
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 35,251,482
GRCh38 1 34,785,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Trait Synonyms
NG_008309.1:g.9693C>T
NC_000001.11:g.34785881C>T
NC_000001.10:g.35251482C>T
NM_001005752.2:c.*306C>T
More... 		01/13/2018 3 prime utr variant uncertain significance infancy 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)
CV282344Humanerythrokeratodermia variabilis et progressiva 1  IAGP 8554872ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1ClinVar 
Gene Symbol:GJB3
Accession:NM_024009
Location:3UTRS;EXON

Gene Symbol:GJB3
Accession:NM_001005752
Location:3UTRS;EXON

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Database
Acc Id
Source(s)
ClinVar RCV000359179 CLINVAR
dbSNP (RS) rs1015503523 CLINVAR
MedGen C4551486 CLINVAR
NCBI Gene GJB3 CLINVAR
OMIM 133200 CLINVAR
  603324 CLINVAR