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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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