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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.
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: 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