Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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