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KCNQ1 c.418_419delinsGC ;(p.S140A)
Variant ID: 11-2549189-AG-GC
NM_000218.2(
KCNQ1
):c.418_419delinsGC;(p.S140A)
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:
Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.
The Journal Of Physiology
Restier, Lioara L; Cheng, Lan L; Sanguinetti, Michael C MC
Publication Date: 2008-09-01
Variant appearance in text: KCNQ1: S140A
PubMed Link:
18599533
Variant Present in the following documents:
Main text
View BVdb publication page