KCNQ1 c.1202_1203insC ;(p.S402Efs*61)

Variant ID: 11-2608873-G-GC

NM_000218.2(KCNQ1):c.1202_1203insC;(p.S402Efs*61)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Bmc Medical Genetics
Christiansen, Michael M; Hedley, Paula L PL; Theilade, Juliane J; Stoevring, Birgitte B; Leren, Trond P TP; Eschen, Ole O; Sørensen, Karina M KM; Tybjærg-Hansen, Anne A; Ousager, Lilian B LB; Pedersen, Lisbeth N LN; Frikke-Schmidt, Ruth R; Aidt, Frederik H FH; Hansen, Michael G MG; Hansen, Jim J; Bloch Thomsen, Poul E PE; Toft, Egon E; Henriksen, Finn L FL; Bundgaard, Henning H; Jensen, Henrik K HK; Kanters, Jørgen K JK
Publication Date: 2014-03-07

Variant appearance in text: KCNQ1: 1202insC
PubMed Link: 24606995
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-31.pdf
View BVdb publication page