NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3]) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000473533.10
Allele description [Variation Report for NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])]
NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Homologene neighbors for GEO Profiles (Select 132560386) (0)
GEO Profiles
-
popset representative uid 1035518235[word] (44)
Protein
-
Conserved Domain Links for Protein (Select 1035518270) (1)
Conserved Domains
-
Homo sapiens microRNA 548f-2 (MIR548F2), microRNA
Homo sapiens microRNA 548f-2 (MIR548F2), microRNAgi|269847243|ref|NR_031643.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024