KCNQ1 c.1630C>T ;(p.Q544*)

Variant ID: 11-2797229-C-T

NM_000218.2(KCNQ1):c.1630C>T;(p.Q544*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.

Molecular Autism
Trelles, M Pilar MP; Levy, Tess T; Lerman, Bonnie B; Siper, Paige P; Lozano, Reymundo R; Halpern, Danielle D; Walker, Hannah H; Zweifach, Jessica J; Frank, Yitzchak Y; Foss-Feig, Jennifer J; Kolevzon, Alexander A; Buxbaum, Joseph J
Publication Date: 2021-09-29

Variant appearance in text: KCNQ1: 1630C>T
PubMed Link: 34588003
Variant Present in the following documents:
  • 13229_2021_469_MOESM1_ESM.pdf
View BVdb publication page



Genomic case report of a low grade bladder tumor metastasis to lung.

Bmc Urology
Van Every, Marvin J MJ; Dancik, Garrett G; Paramesh, Venki V; Gurda, Grzegorz T GT; Meier, David R DR; Cash, Steven E SE; Richmond, Craig S CS; Guin, Sunny S
Publication Date: 2018-09-03

Variant appearance in text: KCNQ1: 1630C>T; Gln544*
PubMed Link: 30176882
Variant Present in the following documents:
  • 12894_2018_386_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page