Sinus Bradycardia syndrome, familial, autosomal dominant
OMIM:163800Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the circulatory system
Mutations
| Gene Symbol | HCN4 |
|---|---|
| Reference transcript | NM_005477.2 |
| DNA Change | c.1454C>T |
| A.A. Change | p.Ala485Val |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Laish-Farkash A, Glikson M, Brass D, Marek-Yagel D, Pras E, Dascal N, Antzelevitch C, Nof E, Reznik H, Eldar M, Luria D.A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews. J Cardiovasc Electrophysiol. 2010 Dec;21(12):1365-72. |