KCNQ1 c.709_710delinsCC ;(p.R237P)

Variant ID: 11-2593268-AG-CC

NM_000218.2(KCNQ1):c.709_710delinsCC;(p.R237P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation
Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S
Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: R237P
PubMed Link: 17470695
Variant Present in the following documents:
  • Main text
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