Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Gln638Ter (p.Q638*)
(
ENST00000700559.2,
ENST00000700564.2,
ENST00000070846.11,
ENST00000700563.2,
ENST00000340811.9 )
PKP2 p.Gln638Ter (p.Q638*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 ) - Associated Disease
- arrhythmogenic right ventricular dysplasia 9
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) AND Arrhythmogenic right ventricular dysplasia 9
- ClinVar Allele ID
- 54216
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.1780C>T
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.1912C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000531123
- ClinVar Disease
- Arrhythmogenic right ventricular dysplasia 9
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs