RGD:150461453 Rat Genome Database

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Variant: RGD:150461453 -  Homo sapiens

RGD ID: 150461453
RS ID: rs1722759
ClinVar ID: CV1253243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 201,288,898
GRCh38 1 201,319,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000299.4:c.1233-46A>C
NM_001005337.3:c.1233-497A>C
NC_000001.11:g.201319770A>C
NC_000001.10:g.201288898A>C
More... 		05/14/2021 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 RCV001669572 CLINVAR
dbSNP (RS) rs1722759 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR