NM_000257.4(MYH7):c.5680T>C (p.Ser1894Pro) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001326003.7
Allele description [Variation Report for NM_000257.4(MYH7):c.5680T>C (p.Ser1894Pro)]
NM_000257.4(MYH7):c.5680T>C (p.Ser1894Pro)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
PREDICTED: Homo sapiens gamma-aminobutyric acid type A receptor subunit beta2 (G...
PREDICTED: Homo sapiens gamma-aminobutyric acid type A receptor subunit beta2 (GABRB2), transcript variant X7, mRNAgi|2462601949|ref|XM_054352312.1|Nucleotide
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Last Updated: Sep 29, 2024