NM_020433.5(JPH2):c.306C>A (p.Ser102Arg) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003587797.1
Allele description
NM_020433.5(JPH2):c.306C>A (p.Ser102Arg)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
helicase SRCAP isoform X2 [Rattus norvegicus]
helicase SRCAP isoform X2 [Rattus norvegicus]gi|2678868764|ref|XP_063123862.1|Protein
-
Rattus norvegicus Snf2-related CREBBP activator protein (Srcap), mRNA
Rattus norvegicus Snf2-related CREBBP activator protein (Srcap), mRNAgi|2644607806|ref|NM_001426934.1|Nucleotide
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Last Updated: Feb 20, 2024