Rs12720459

rs12720459, known also as Ala341Val and formerly as Ala212Val and Ala246Val, is a SNP in the potassium voltage-gated channel, KQT-like subfamily, member 1 KCNQ1 gene.

This SNP, specifically rs12720459(T), represents one of the most common mutations within the KCNQ1 gene leading to LQT1, the most common form of Long QT syndrome. LQT1 is one of the less severe forms of Long QT syndrome.

see OMIM 607542.0010