KCNQ1 c.188C>A ;(p.P63H)

Variant ID: 11-2466516-C-A

NM_000218.2(KCNQ1):c.188C>A;(p.P63H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Human Molecular Genetics
Theis, Jeanne L JL; Zimmermann, Michael T MT; Larsen, Brandon T BT; Rybakova, Inna N IN; Long, Pamela A PA; Evans, Jared M JM; Middha, Sumit S; de Andrade, Mariza M; Moss, Richard L RL; Wieben, Eric D ED; Michels, Virginia V VV; Olson, Timothy M TM
Publication Date: 2014-11-01

Variant appearance in text: KCNQ1: 188C>A; P63H
PubMed Link: 24925317
Variant Present in the following documents:
  • Main text
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