NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 29, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001189102.3
Allele description [Variation Report for NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)]
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)
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