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KCNQ1 c.743_744delinsTC ;(p.W248F)
Variant ID: 11-2593302-GG-TC
NM_000218.2(
KCNQ1
):c.743_744delinsTC;(p.W248F)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.
Human Genome Variation
Matsuda, Shinichi S; Ohnuki, Yuko Y; Okami, Mayuri M; Ochiai, Eriko E; Yamada, Shiro S; Takahashi, Kazumi K; Osawa, Motoki M; Okami, Kenji K; Iida, Masahiro M; Mochizuki, Hiroyuki H
Publication Date: 2020
Variant appearance in text: KCNQ1: Trp248Phe; rs397508123
PubMed Link:
33082985
Variant Present in the following documents:
Main text
41439_2020_Article_121.pdf
View BVdb publication page