KCNQ1 c.1008C>T ;(p.A336=)

Variant ID: 11-2604751-C-T

NM_000218.2(KCNQ1):c.1008C>T;(p.A336=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: rs201009813
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Thescientificworldjournal
Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM
Publication Date: 2013

Variant appearance in text: KCNQ1: A336A
PubMed Link: 23710137
Variant Present in the following documents:
  • Main text
  • TSWJ2013-373454.pdf
View BVdb publication page