KCNQ1 c.1319del ;(p.V440Afs*26)

Variant ID: 11-2610010-GT-G

NM_000218.2(KCNQ1):c.1319del;(p.V440Afs*26)

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: 1319delT
PubMed Link: 36140355
Variant Present in the following documents:
  • biomedicines-10-02254.pdf
View BVdb publication page



Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.

Journal Of Cardiovascular Disease Research
Gao, Yuanfeng Y; Li, Cuilan C; Liu, Wenling W; Wu, Robby R; Qiu, Xiaoliang X; Liang, Ruijuan R; Li, Lei L; Zhang, Li L; Hu, Dayi D
Publication Date: 2012-04

Variant appearance in text: KCNQ1: 1319delT
PubMed Link: 22629021
Variant Present in the following documents:
  • Main text
  • JCDR-3-67.pdf
View BVdb publication page