RGD:150477722 Rat Genome Database

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Variant: RGD:150477722 -  Homo sapiens

RGD ID: 150477722
RS ID: rs1779293
ClinVar ID: CV1218667
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 201,290,790
GRCh38 1 201,321,662
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.1348-316T>A
NM_000299.4:c.1411-316T>A
NG_023337.1:g.43211T>A
NC_000001.11:g.201321662T>A
More... 		06/19/2021 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 RCV001616294 CLINVAR
dbSNP (RS) rs1779293 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR