Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNQ1 c.259C>T ;(p.L87=)
Variant ID: 11-2466587-C-T
NM_000218.2(
KCNQ1
):c.259C>T;(p.L87=)
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:
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.
Journal Of Geriatric Cardiology : Jgc
Wu, Zhi-Juan ZJ; Huang, Yun Y; Fu, Yi-Cheng YC; Zhao, Xiao-Jing XJ; Zhu, Chao C; Zhang, Yu Y; Xu, Bin B; Zhu, Qing-Lei QL; Li, Yang Y
Publication Date: 2015-07
Variant appearance in text: KCNQ1: 259C>T
PubMed Link:
26346102
Variant Present in the following documents:
Main text
jgc-12-04-394.pdf
View BVdb publication page