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KCNQ1 c.435C>A ;(p.I145=)
Variant ID: 11-2549206-C-A
NM_000218.2(
KCNQ1
):c.435C>A;(p.I145=)
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:
Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use.
Scientific Reports
Nagasawa, Sayaka S; Saitoh, Hisako H; Kasahara, Shiori S; Chiba, Fumiko F; Torimitsu, Suguru S; Abe, Hiroko H; Yajima, Daisuke D; Iwase, Hirotaro H
Publication Date: 2018-05-31
Variant appearance in text: LQT1: I145I
PubMed Link:
29855564
Variant Present in the following documents:
Main text
41598_2018_Article_26723.pdf
View BVdb publication page
Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.
Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Zhang, Yu Y; Chang, Bingxi B; Hu, Songnian S; Wang, Duenmei D; Fang, Quan Q; Huang, Xianyong X; Zeng, Qiang Q; Qi, Ming M
Publication Date: 2008-04
Variant appearance in text: KCNQ1: I145I
PubMed Link:
18426444
Variant Present in the following documents:
Main text
View BVdb publication page