NM_000257.4(MYH7):c.706G>A (p.Val236Ile) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000703942.7
Allele description [Variation Report for NM_000257.4(MYH7):c.706G>A (p.Val236Ile)]
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform 8 [Homo sapi...
serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform 8 [Homo sapiens]gi|1204934576|ref|NP_001339279.1|Protein
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Last Updated: Oct 26, 2024