NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004003601.2
Allele description [Variation Report for NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu)]
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
intraflagellar transport protein 81 homolog isoform 2 [Homo sapiens]
intraflagellar transport protein 81 homolog isoform 2 [Homo sapiens]gi|34147403|ref|NP_113661.2|Protein
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Last Updated: Sep 29, 2024