KCNQ1 c.1741A>T ;(p.K581*)

Variant ID: 11-2799214-A-T

NM_000218.2(KCNQ1):c.1741A>T;(p.K581*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.

Biomedicines
Homma, Kazuaki K
Publication Date: 2022-09-12

Variant appearance in text: Kv7.1: 1741A>T
PubMed Link: 36140355
Variant Present in the following documents:
  • biomedicines-10-02254.pdf
View BVdb publication page



Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family.

Neural Plasticity
Qiu, Yue Y; Chen, Sen S; Wu, Xia X; Zhang, Wen-Juan WJ; Xie, Wen W; Jin, Yuan Y; Xie, Le L; Xu, Kai K; Bai, Xue X; Zhang, Hui-Min HM; Liu, Xiao-Zhou XZ; Wang, Xiao-Hui XH; Sun, Yu Y; Kong, Wei-Jia WJ
Publication Date: 2020

Variant appearance in text: KCNQ1: 1741A>T
PubMed Link: 32508908
Variant Present in the following documents:
  • Main text
  • NP2020-3569359.pdf
View BVdb publication page