KCNQ1 c.1082_1083insAAAGCAAAGGCA ;(p.Q359_K362dup)

Variant ID: 11-2606486-G-GAGGCAAAAGCAA

NM_000218.2(KCNQ1):c.1082_1083insAAAGCAAAGGCA;(p.Q359_K362dup)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation.

Frontiers In Neurology
Prüss, Harald H; Gessner, Guido G; Heinemann, Stefan H SH; Rüschendorf, Franz F; Ruppert, Ann-Kathrin AK; Schulz, Herbert H; Sander, Thomas T; Rimpau, Wilhelm W
Publication Date: 2019

Variant appearance in text: KCNQ1: R360_Q361insQKQR
PubMed Link: 31293497
Variant Present in the following documents:
  • Main text
  • fneur-10-00648.pdf
View BVdb publication page