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.




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
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