NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000773797.5
Allele description [Variation Report for NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)]
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: May 7, 2024