KCNH2 c.1615_1617del ;(p.L539del)

Variant ID: 7-150648863-CCAG-C

NM_000238.3(KCNH2):c.1615_1617del;(p.L539del)

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: KCNH2: L539del
PubMed Link: 24606995
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-31.pdf
View BVdb publication page