NM_000257.4(MYH7):c.1145A>G (p.Asp382Gly) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000697662.6
Allele description [Variation Report for NM_000257.4(MYH7):c.1145A>G (p.Asp382Gly)]
NM_000257.4(MYH7):c.1145A>G (p.Asp382Gly)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
synaptotagmin-2 [Homo sapiens]
synaptotagmin-2 [Homo sapiens]gi|31543670|ref|NP_796376.2|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024