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KCNQ1 c.1201_1202delinsTA ;(p.R401*)
Variant ID: 11-2608872-CG-TA
NM_000218.2(
KCNQ1
):c.1201_1202delinsTA;(p.R401*)
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:
Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.
Plos One
Suktitipat, Bhoom B; Sathirareuangchai, Sakda S; Roothumnong, Ekkapong E; Thongnoppakhun, Wanna W; Wangkiratikant, Purin P; Vorasan, Nutchavadee N; Krittayaphong, Rungroj R; Pithukpakorn, Manop M; Boonyapisit, Warangkna W
Publication Date: 2017
Variant appearance in text: KCNQ1: Arg401*
PubMed Link:
28704380
Variant Present in the following documents:
Main text
pone.0180056.pdf
View BVdb publication page