NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852708.1
Allele description [Variation Report for NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)]
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
Condition(s)
- Name:
- Atrial fibrillation
- Identifiers:
- EFO: EFO_0000275; MONDO: MONDO:0004981; MedGen: C0004238; Human Phenotype Ontology: HP:0005110
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
- Name:
- Ventricular tachycardia
- Identifiers:
- EFO: EFO_0005306; MONDO: MONDO:0005477; MedGen: C0042514; Human Phenotype Ontology: HP:0004756
Assertion and evidence details
Last Updated: May 7, 2024