NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001179460.4
Allele description [Variation Report for NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)]
NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: Sep 29, 2024