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:
- RCV003749902.2
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
-
uncharacterized protein YAL037W [Saccharomyces cerevisiae S288C]
uncharacterized protein YAL037W [Saccharomyces cerevisiae S288C]gi|6319280|ref|NP_009363.1|Protein
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Last Updated: Sep 29, 2024