Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.His318GlnfsTer24 (p.H318Qfs*24)
(
ENST00000340811.9,
ENST00000700563.2,
ENST00000070846.11,
ENST00000700564.2,
ENST00000700559.2 )
PKP2 p.His318GlnfsTer24 (p.H318Qfs*24) ( 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.951_983delinsAC (p.His318fs) AND Arrhythmogenic right ventricular cardiomyopathy
- ClinVar Allele ID
- 54258
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.951_983delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.951_983delinsAC
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038232
- ClinVar Disease
- Arrhythmogenic right ventricular cardiomyopathy
- Observed Origin Sample
- germline
Drugs