KCNQ1 c.658C>A ;(p.Q220K)

Variant ID: 11-2592608-C-A

NM_000218.2(KCNQ1):c.658C>A;(p.Q220K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 658C>A; Gln220Lys
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Circulation. Genomic And Precision Medicine
Streeten, Elizabeth A EA; See, Vincent Y VY; Jeng, Linda B J LBJ; Maloney, Kristin A KA; Lynch, Megan M; Glazer, Andrew M AM; Yang, Tao T; Roden, Dan D; Pollin, Toni I TI; Daue, Melanie M; Ryan, Kathleen A KA; Van Hout, Cristopher C; Gosalia, Nehal N; Gonzaga-Jauregui, Claudia C; Economides, Aris A; Perry, James A JA; O'Connell, Jeffrey J; Beitelshees, Amber A; Palmer, Kathleen K; Mitchell, Braxton D BD; Shuldiner, Alan R AR; ,
Publication Date: 2020-12

Variant appearance in text: KCNQ1: 658C>A; Gln220Lys; rs755789171
PubMed Link: 33141630
Variant Present in the following documents:
  • hcg-13-e003133-s002.xls, sheet 1
View BVdb publication page



Genetic screening in sudden cardiac death in the young can save future lives.

International Journal Of Legal Medicine
Stattin, Eva-Lena EL; Westin, Ida Maria IM; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Mörner, Stellan S; Norberg, Anna A; Krantz, Peter P; Wisten, Aase A
Publication Date: 2016-01

Variant appearance in text: KCNQ1: 658C>A
PubMed Link: 26228265
Variant Present in the following documents:
  • Main text
  • 414_2015_Article_1237.pdf
View BVdb publication page