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KCNQ1 c.859_860delinsCA ;(p.A287Q)
Variant ID: 11-2594154-GC-CA
NM_000218.2(
KCNQ1
):c.859_860delinsCA;(p.A287Q)
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:
Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T).
Heartrhythm Case Reports
Rothenberg, Ina I; Piccini, Ilaria I; Wrobel, Eva E; Stallmeyer, Birgit B; Müller, Jovanca J; Greber, Boris B; Strutz-Seebohm, Nathalie N; Schulze-Bahr, Eric E; Schmitt, Nicole N; Seebohm, Guiscard G
Publication Date: 2016-11
Variant appearance in text: LQT1: A287Q
PubMed Link:
28491751
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page