KCNQ1 c.784_786delinsTTT ;(p.L262F)

Variant ID: 11-2594079-CTG-TTT

NM_000218.2(KCNQ1):c.784_786delinsTTT;(p.L262F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.

International Journal Of Cardiology
Landstrom, Andrew P AP; Boczek, Nicole J NJ; Ye, Dan D; Miyake, Christina Y CY; De la Uz, Caridad M CM; Allen, Hugh D HD; Ackerman, Michael J MJ; Kim, Jeffrey J JJ
Publication Date: 2016-10-01

Variant appearance in text: KCNQ1: L262F
PubMed Link: 27390944
Variant Present in the following documents:
  • Main text
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