This page contains an overview of the genetic variation in the PKP2 gene, including its role in inherited cardiac disease.
For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
- Arrhythmogenic Right Ventricular Cardiomyopathy
explore in detailBased on an analysis of rare variants (MAF<0.0001) in PKP2 detected in a cohort of 361 ARVC patients sequenced at OMGL clinical laboratories, compared to ExAC controls.DCM
- Dilated Cardiomyopathy
explore in detailBased on an analysis of rare variants (MAF<0.0001) in PKP2 detected in a cohort of 427 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.
Details of the protein-altering PKP2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in
the ExAC database are shown below.
To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
Rare variants are defined as having a mean allelic frequency of less than 0.0001.
|Total Variants||Combined frequency of rare variants|