HCN4

Gene name: hyperpolarization activated cyclic nucleotide-gated potassium channel 4
OMIM ID: 605206
Chromosome location: 15q24.1

Mutations

Disease/Phenotype	Sinus Bradycardia syndrome, familial, autosomal dominant
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.

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