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SCN5A c.4913G>C ;(p.G1638A)
Variant ID: 3-38592947-C-G
NM_000335.4(
SCN5A
):c.4913G>C;(p.G1638A)
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: LQT3: G1638A
PubMed Link:
29855564
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.
British Journal Of Clinical Pharmacology
Koo, Seok Hwee SH; Ho, Woon Fei WF; Lee, Edmund Jon Deoon EJ
Publication Date: 2006-03
Variant appearance in text: SCN5A: G1638A
PubMed Link:
16487223
Variant Present in the following documents:
Main text
View BVdb publication page