NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001862879.11
Allele description [Variation Report for NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg)]
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
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Polyarteritis Nodosa
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Peritonitis
PeritonitisINFLAMMATION of the PERITONEUM lining the ABDOMINAL CAVITY as the result of infectious, autoimmune, or chemical processes. Primary peritonitis is due to infection of the PERIT...<br/>MeSH
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Profile neighbors for GEO Profiles (Select 131547859) (200)
GEO Profiles
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PubChem Substance Links for Gene (Select 29081) (67)
PubChem Substance
-
Methyltransferase EZH2 inhibition effect on ARID1A mutated ovarian clear cell ca...
Methyltransferase EZH2 inhibition effect on ARID1A mutated ovarian clear cell cancer cell lineAccession: GDS5816GEO DataSets
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Last Updated: Aug 25, 2024