NM_001005242.3(PKP2):c.512G>A (p.Arg171Lys) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004013897.2
Allele description [Variation Report for NM_001005242.3(PKP2):c.512G>A (p.Arg171Lys)]
NM_001005242.3(PKP2):c.512G>A (p.Arg171Lys)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MedGen: C0349788
Assertion and evidence details
Last Updated: May 7, 2024