NM_000257.4(MYH7):c.198C>G (p.Gly66=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001407922.7
Allele description [Variation Report for NM_000257.4(MYH7):c.198C>G (p.Gly66=)]
NM_000257.4(MYH7):c.198C>G (p.Gly66=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
RecName: Full=Cytochrome c oxidase subunit 1; AltName: Full=Cytochrome c oxidase...
RecName: Full=Cytochrome c oxidase subunit 1; AltName: Full=Cytochrome c oxidase polypeptide Igi|75069422|sp|O99041.1|COX1_COLPOProtein
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Last Updated: Sep 29, 2024