KCNQ1 c.1277A>G ;(p.D426G)

Variant ID: 11-2609968-A-G

NM_000218.2(KCNQ1):c.1277A>G;(p.D426G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology
Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP
Publication Date: 2021

Variant appearance in text: KCNQ1: 1277A>G
PubMed Link: 34692690
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: KCNQ1: 1277A>G
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_741.pdf
View BVdb publication page