RGD:150503370 Rat Genome Database

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Variant: RGD:150503370 -  Homo sapiens

RGD ID: 150503370
RS ID: rs79685836
ClinVar ID: CV1257782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 201,294,622
GRCh38 1 201,325,494
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005337.3:c.2022-260G>A
NM_000299.4:c.2085-260G>A
NG_023337.1:g.47043G>A
NC_000001.11:g.201325494G>A
More... 		11/12/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PKP1
Accession:NM_000299
Location:INTRON

Gene Symbol:PKP1
Accession:NM_001005337
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001677470 CLINVAR
dbSNP (RS) rs79685836 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR