Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Lys258Ter (p.K258*)
(
ENST00000340811.9,
ENST00000700563.2,
ENST00000700564.2,
ENST00000070846.11,
ENST00000700559.2 )
PKP2 p.Lys258Ter (p.K258*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 ) - Associated Disease
- arrhythmogenic right ventricular cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) AND Arrhythmogenic right ventricular cardiomyopathy
- ClinVar Allele ID
- 175729
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.772A>T
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.772A>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2013-01-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000154661
- ClinVar Disease
- Arrhythmogenic right ventricular cardiomyopathy
- Observed Origin Sample
- germline
Drugs