NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) AND Arrhythmogenic right ventricular dysplasia 9
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000471559.19
Allele description [Variation Report for NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)]
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 9 (ARVD9)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic right ventricular cardiomyopathy, type 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
- Identifiers:
- MONDO: MONDO:0012180; MedGen: C1836906; OMIM: 609040
Assertion and evidence details
Last Updated: Dec 22, 2024