NM_000257.4(MYH7):c.1356A>G (p.Pro452=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 9, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000981377.8
Allele description [Variation Report for NM_000257.4(MYH7):c.1356A>G (p.Pro452=)]
NM_000257.4(MYH7):c.1356A>G (p.Pro452=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
PREDICTED: Homo sapiens PPARG related coactivator 1 (PPRC1), transcript variant ...
PREDICTED: Homo sapiens PPARG related coactivator 1 (PPRC1), transcript variant X23, mRNAgi|2462518033|ref|XM_054365302.1|Nucleotide
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Last Updated: Aug 11, 2024