RGD:156132031 Rat Genome Database

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Variant: RGD:156132031 -  Homo sapiens

RGD ID: 156132031
ClinVar ID: CV1962754
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 201,294,056
GRCh38 1 201,324,928
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.1835-13G>A
NM_000299.4:c.1898-13G>A
NG_023337.2:g.46424G>A
NG_023337.1:g.46477G>A
More... 		10/09/2022 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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002572267 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR