NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly) AND Sick sinus syndrome 2, autosomal dominant
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 26, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415571.2
Allele description [Variation Report for NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly)]
NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly)
Condition(s)
- Name:
- Sick sinus syndrome 2, autosomal dominant (SSS2)
- Synonyms:
- ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA; SINUS BRADYCARDIA SYNDROME, FAMILIAL, AUTOSOMAL DOMINANT; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008102; MedGen: C1834144; Orphanet: 166282; OMIM: 163800
Assertion and evidence details
Last Updated: Jun 9, 2024