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KCNQ1 c.630G>T ;(p.M210I)
Variant ID: 11-2592580-G-T
NM_000218.2(
KCNQ1
):c.630G>T;(p.M210I)
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:
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
Plos Computational Biology
Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE
Publication Date: 2020-08
Variant appearance in text: KCNQ1: M210I
PubMed Link:
32797034
Variant Present in the following documents:
Main text
pcbi.1008109.pdf
View BVdb publication page