KCNQ1 c.1514+7220T>C

Variant ID: 11-2690531-T-C

NM_000218.2(KCNQ1):c.1514+7220T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4930005
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs4930005
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Associations between the maternal circulating lipid profile in pregnancy and fetal imprinted gene alleles: a cohort study.

Reproductive Biology And Endocrinology : Rb&E
Petry, Clive J CJ; Koulman, Albert A; Lu, Liangjian L; Jenkins, Benjamin B; Furse, Samuel S; Prentice, Philippa P; Matthews, Lee L; Hughes, Ieuan A IA; Acerini, Carlo L CL; Ong, Ken K KK; Dunger, David B DB
Publication Date: 2018-08-29

Variant appearance in text: rs4930005
PubMed Link: 30157874
Variant Present in the following documents:
  • Main text
  • 12958_2018_Article_399.pdf
View BVdb publication page



The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.

Human Molecular Genetics
Chiesa, Nicoletta N; De Crescenzo, Agostina A; Mishra, Kankadeb K; Perone, Lucia L; Carella, Massimo M; Palumbo, Orazio O; Mussa, Alessandro A; Sparago, Angela A; Cerrato, Flavia F; Russo, Silvia S; Lapi, Elisabetta E; Cubellis, Maria Vittoria MV; Kanduri, Chandrasekhar C; Cirillo Silengo, Margherita M; Riccio, Andrea A; Ferrero, Giovanni Battista GB
Publication Date: 2012-01-01

Variant appearance in text: rs4930005
PubMed Link: 21920939
Variant Present in the following documents:
  • Main text
  • ddr419.pdf
View BVdb publication page