NM_020433.5(JPH2):c.818C>T (p.Ala273Val) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003749902.1
Allele description [Variation Report for NM_020433.5(JPH2):c.818C>T (p.Ala273Val)]
NM_020433.5(JPH2):c.818C>T (p.Ala273Val)
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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Profile neighbors for GEO Profiles (Select 74269625) (200)
GEO Profiles
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Full text in PMC (nucleotide) for Gene (Select 311536) (7)
PMC
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ZNF311 zinc finger protein 311 [Homo sapiens]
ZNF311 zinc finger protein 311 [Homo sapiens]Gene ID:282890Gene
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Gene Links for Nucleotide (Select 2462607983) (1)
Gene
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Homologene neighbors for GEO Profiles (Select 107151640) (0)
GEO Profiles
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Last Updated: Feb 28, 2024