NC_012920.1(MT-ATP8):m.8528T>C AND Histiocytoid cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000854219.1
Allele description [Variation Report for NC_012920.1(MT-ATP8):m.8528T>C]
NC_012920.1(MT-ATP8):m.8528T>C
Condition(s)
- Name:
- Histiocytoid cardiomyopathy
- Synonyms:
- Infantile histiocytoid cardiomyopathy; Foamy myocardial transformation of infancy
- Identifiers:
- MONDO: MONDO:0010771; MedGen: C1708371; Orphanet: 137675; OMIM: 500000; Human Phenotype Ontology: HP:0005152
Assertion and evidence details
Last Updated: May 1, 2024