RGD:402519818 Rat Genome Database

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Variant: RGD:402519818 -  Homo sapiens

RGD ID: 402519818
ClinVar ID: CV3136032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 201,294,864
GRCh38 1 201,325,736
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.2022-18C>T
NM_000299.4:c.2085-18C>T
NG_023337.2:g.47232C>T
NG_023337.1:g.47285C>T
More... 		10/17/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PKP1
Accession:NM_001005337
Location:INTRON

Gene Symbol:PKP1
Accession:NM_000299
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003824658 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR