KCNQ1 c.463_464delinsTG ;(p.T155C)

Variant ID: 11-2549234-AC-TG

NM_000218.2(KCNQ1):c.463_464delinsTG;(p.T155C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state.

Elife
Taylor, Keenan C KC; Kang, Po Wei PW; Hou, Panpan P; Yang, Nien-Du ND; Kuenze, Georg G; Smith, Jarrod A JA; Shi, Jingyi J; Huang, Hui H; White, Kelli McFarland KM; Peng, Dungeng D; George, Alfred L AL; Meiler, Jens J; McFeeters, Robert L RL; Cui, Jianmin J; Sanders, Charles R CR
Publication Date: 2020-02-25

Variant appearance in text: KCNQ1: T155C
PubMed Link: 32096762
Variant Present in the following documents:
  • Main text
  • elife-53901.pdf
View BVdb publication page



Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis.

Bmc Medical Genetics
Winkel, Bo G BG; Hollegaard, Mads V MV; Olesen, Morten S MS; Svendsen, Jesper H JH; Haunsø, Stig S; Hougaard, David M DM; Tfelt-Hansen, Jacob J
Publication Date: 2011-02-09

Variant appearance in text: KCNQ1: T155C
PubMed Link: 21306642
Variant Present in the following documents:
  • 1471-2350-12-22.pdf
View BVdb publication page