RGD:151232730 Rat Genome Database

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Variant: RGD:151232730 -  Homo sapiens

RGD ID: 151232730
RS ID: rs146465582
ClinVar ID: CV1316888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 201,289,315
GRCh38 1 201,320,187
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.1233-80C>T
NM_000299.4:c.1296-80C>T
NG_023337.1:g.41736C>T
NC_000001.11:g.201320187C>T
More... 		05/25/2021 intron variant likely 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 RCV001786708 CLINVAR
dbSNP (RS) rs146465582 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR