Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Trp538Ter (p.W538*)
(
ENST00000070846.11,
ENST00000700564.2,
ENST00000700559.2,
ENST00000340811.9,
ENST00000700563.2 )
PKP2 p.Trp538Ter (p.W538*) ( 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.1482G>A (p.Trp494Ter) AND Arrhythmogenic right ventricular cardiomyopathy
- ClinVar Allele ID
- 54203
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.1482G>A
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.1614G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2008-09-05
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038175
- ClinVar Disease
- Arrhythmogenic right ventricular cardiomyopathy
- Observed Origin Sample
- germline
Drugs