NM_000257.4(MYH7):c.1299G>A (p.Glu433=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002559189.3
Allele description [Variation Report for NM_000257.4(MYH7):c.1299G>A (p.Glu433=)]
NM_000257.4(MYH7):c.1299G>A (p.Glu433=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Gene Links for GEO Profiles (Select 68057571) (2)
Gene
-
STAU2-AS1 STAU2 antisense RNA 1 [Homo sapiens]
STAU2-AS1 STAU2 antisense RNA 1 [Homo sapiens]Gene ID:100128126Gene
-
Gene Links for GEO Profiles (Select 68036973) (1)
Gene
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Last Updated: Sep 29, 2024