KCNQ1 c.1515-55G>A

Variant ID: 11-2790019-G-A

NM_000218.2(KCNQ1):c.1515-55G>A

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2075870
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: KCNQ1: 1515-55G>A; rs2075870
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Parent-of-Origin inference for biobanks.

Nature Communications
Hofmeister, Robin J RJ; Rubinacci, Simone S; Ribeiro, Diogo M DM; Buil, Alfonso A; Kutalik, Zoltán Z; Delaneau, Olivier O
Publication Date: 2022-11-05

Variant appearance in text: rs2075870
PubMed Link: 36335127
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34383.pdf
View BVdb publication page



Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: rs2075870
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics
Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D
Publication Date: 2022-07-21

Variant appearance in text: rs2075870
PubMed Link: 35864542
Variant Present in the following documents:
  • 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Npj Genomic Medicine
Torrado, Mario M; Fernández, Germán G; Ganoza, Christian A CA; Maneiro, Emilia E; García, Diego D; Sonicheva-Paterson, Natalia N; Rosa, Isaac I; Ochoa, Juan Pablo JP; Santomé, Luis L; Vasichkina, Elena E; Monserrat, Lorenzo L
Publication Date: 2021-03-04

Variant appearance in text: rs2075870
PubMed Link: 33664273
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_183.pdf
View BVdb publication page



Characterizing rare and low-frequency height-associated variants in the Japanese population.

Nature Communications
Akiyama, Masato M; Ishigaki, Kazuyoshi K; Sakaue, Saori S; Momozawa, Yukihide Y; Horikoshi, Momoko M; Hirata, Makoto M; Matsuda, Koichi K; Ikegawa, Shiro S; Takahashi, Atsushi A; Kanai, Masahiro M; Suzuki, Sadao S; Matsui, Daisuke D; Naito, Mariko M; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Tanno, Kozo K; Sasaki, Makoto M; Hozawa, Atsushi A; Minegishi, Naoko N; Wakai, Kenji K; Tsugane, Shoichiro S; Shimizu, Atsushi A; Yamamoto, Masayuki M; Okada, Yukinori Y; Murakami, Yoshinori Y; Kubo, Michiaki M; Kamatani, Yoichiro Y
Publication Date: 2019-09-27

Variant appearance in text: rs2075870
PubMed Link: 31562340
Variant Present in the following documents:
  • 41467_2019_12276_MOESM1_ESM.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: KCNQ1: 1515-55G>A; rs2075870
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2075870
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Epigenetic and genetic components of height regulation.

Nature Communications
Benonisdottir, Stefania S; Oddsson, Asmundur A; Helgason, Agnar A; Kristjansson, Ragnar P RP; Sveinbjornsson, Gardar G; Oskarsdottir, Arna A; Thorleifsson, Gudmar G; Davidsson, Olafur B OB; Arnadottir, Gudny A GA; Sulem, Gerald G; Jensson, Brynjar O BO; Holm, Hilma H; Alexandersson, Kristjan F KF; Tryggvadottir, Laufey L; Walters, G Bragi GB; Gudjonsson, Sigurjon A SA; Ward, Lucas D LD; Sigurdsson, Jon K JK; Iordache, Paul D PD; Frigge, Michael L ML; Rafnar, Thorunn T; Kong, Augustine A; Masson, Gisli G; Helgason, Hannes H; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Stefansson, Kari K
Publication Date: 2016-11-16

Variant appearance in text: rs2075870
PubMed Link: 27848971
Variant Present in the following documents:
  • ncomms13490-s1.pdf
View BVdb publication page



Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Heart Asia
Chen, Lin Y LY; Goh, June M JM; Wong, Raymond C RC; Hsu, Li-Fern LF; Foo, David D; Benditt, David G DG; Ling, Lieng H LH; Heng, Chew K CK
Publication Date: 2010

Variant appearance in text: rs2075870
PubMed Link: 27325960
Variant Present in the following documents:
  • Main text
View BVdb publication page



Height-reducing variants and selection for short stature in Sardinia.

Nature Genetics
Zoledziewska, Magdalena M; Sidore, Carlo C; Chiang, Charleston W K CWK; Sanna, Serena S; Mulas, Antonella A; Steri, Maristella M; Busonero, Fabio F; Marcus, Joseph H JH; Marongiu, Michele M; Maschio, Andrea A; Ortega Del Vecchyo, Diego D; Floris, Matteo M; Meloni, Antonella A; Delitala, Alessandro A; Concas, Maria Pina MP; Murgia, Federico F; Biino, Ginevra G; Vaccargiu, Simona S; Nagaraja, Ramaiah R; Lohmueller, Kirk E KE; , ; Timpson, Nicholas J NJ; Soranzo, Nicole N; Tachmazidou, Ioanna I; Dedoussis, George G; Zeggini, Eleftheria E; , ; Uzzau, Sergio S; Jones, Chris C; Lyons, Robert R; Angius, Andrea A; Abecasis, Gonçalo R GR; Novembre, John J; Schlessinger, David D; Cucca, Francesco F
Publication Date: 2015-11

Variant appearance in text: rs2075870
PubMed Link: 26366551
Variant Present in the following documents:
  • Main text
  • emss-64788.pdf
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: rs2075870
PubMed Link: 23710137
Variant Present in the following documents:
  • Main text
  • TSWJ2013-373454.pdf
View BVdb publication page



Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

American Journal Of Human Genetics
Lanktree, Matthew B MB; Guo, Yiran Y; Murtaza, Muhammed M; Glessner, Joseph T JT; Bailey, Swneke D SD; Onland-Moret, N Charlotte NC; Lettre, Guillaume G; Ongen, Halit H; Rajagopalan, Ramakrishnan R; Johnson, Toby T; Shen, Haiqing H; Nelson, Christopher P CP; Klopp, Norman N; Baumert, Jens J; Padmanabhan, Sandosh S; Pankratz, Nathan N; Pankow, James S JS; Shah, Sonia S; Taylor, Kira K; Barnard, John J; Peters, Bas J BJ; Maloney, Cliona M CM; Lobmeyer, Maximilian T MT; Stanton, Alice A; Zafarmand, M Hadi MH; Romaine, Simon P R SP; Mehta, Amar A; van Iperen, Erik P A EP; Gong, Yan Y; Price, Tom S TS; Smith, Erin N EN; Kim, Cecilia E CE; Li, Yun R YR; Asselbergs, Folkert W FW; Atwood, Larry D LD; Bailey, Kristian M KM; Bhatt, Deepak D; Bauer, Florianne F; Behr, Elijah R ER; Bhangale, Tushar T; Boer, Jolanda M A JM; Boehm, Bernhard O BO; Bradfield, Jonathan P JP; Brown, Morris M; Braund, Peter S PS; Burton, Paul R PR; Carty, Cara C; Chandrupatla, Hareesh R HR; Chen, Wei W; Connell, John J; Dalgeorgou, Chrysoula C; Boer, Anthonius de Ad; Drenos, Fotios F; Elbers, Clara C CC; Fang, James C JC; Fox, Caroline S CS; Frackelton, Edward C EC; Fuchs, Barry B; Furlong, Clement E CE; Gibson, Quince Q; Gieger, Christian C; Goel, Anuj A; Grobbee, Diederik E DE; Hastie, Claire C; Howard, Philip J PJ; Huang, Guan-Hua GH; Johnson, W Craig WC; Li, Qing Q; Kleber, Marcus E ME; Klein, Barbara E K BE; Klein, Ronald R; Kooperberg, Charles C; Ky, Bonnie B; Lacroix, Andrea A; Lanken, Paul P; Lathrop, Mark M; Li, Mingyao M; Marshall, Vanessa V; Melander, Olle O; Mentch, Frank D FD; Meyer, Nuala J NJ; Monda, Keri L KL; Montpetit, Alexandre A; Murugesan, Gurunathan G; Nakayama, Karen K; Nondahl, Dave D; Onipinla, Abiodun A; Rafelt, Suzanne S; Newhouse, Stephen J SJ; Otieno, F George FG; Patel, Sanjey R SR; Putt, Mary E ME; Rodriguez, Santiago S; Safa, Radwan N RN; Sawyer, Douglas B DB; Schreiner, Pamela J PJ; Simpson, Claire C; Sivapalaratnam, Suthesh S; Srinivasan, Sathanur R SR; Suver, Christine C; Swergold, Gary G; Sweitzer, Nancy K NK; Thomas, Kelly A KA; Thorand, Barbara B; Timpson, Nicholas J NJ; Tischfield, Sam S; Tobin, Martin M; Tomaszewski, Maciej M; Tomaszweski, Maciej M; Verschuren, W M Monique WM; Wallace, Chris C; Winkelmann, Bernhard B; Zhang, Haitao H; Zheng, Dongling D; Zhang, Li L; Zmuda, Joseph M JM; Clarke, Robert R; Balmforth, Anthony J AJ; Danesh, John J; Day, Ian N IN; Schork, Nicholas J NJ; de Bakker, Paul I W PI; Delles, Christian C; Duggan, David D; Hingorani, Aroon D AD; Hirschhorn, Joel N JN; Hofker, Marten H MH; Humphries, Steve E SE; Kivimaki, Mika M; Lawlor, Debbie A DA; Kottke-Marchant, Kandice K; Mega, Jessica L JL; Mitchell, Braxton D BD; Morrow, David A DA; Palmen, Jutta J; Redline, Susan S; Shields, Denis C DC; Shuldiner, Alan R AR; Sleiman, Patrick M PM; Smith, George Davey GD; Farrall, Martin M; Jamshidi, Yalda Y; Christiani, David C DC; Casas, Juan P JP; Hall, Alistair S AS; Doevendans, Pieter A PA; Christie, Jason D JD; Berenson, Gerald S GS; Murray, Sarah S SS; Illig, Thomas T; Dorn, Gerald W GW; Cappola, Thomas P TP; Boerwinkle, Eric E; Sever, Peter P; Rader, Daniel J DJ; Reilly, Muredach P MP; Caulfield, Mark M; Talmud, Philippa J PJ; Topol, Eric E; Engert, James C JC; Wang, Kai K; Dominiczak, Anna A; Hamsten, Anders A; Curtis, Sean P SP; Silverstein, Roy L RL; Lange, Leslie A LA; Sabatine, Marc S MS; Trip, Mieke M; Saleheen, Danish D; Peden, John F JF; Cruickshanks, Karen J KJ; März, Winfried W; O'Connell, Jeffrey R JR; Klungel, Olaf H OH; Wijmenga, Cisca C; Maitland-van der Zee, Anke Hilse AH; Schadt, Eric E EE; Johnson, Julie A JA; Jarvik, Gail P GP; Papanicolaou, George J GJ; , ; Grant, Struan F A SF; Munroe, Patricia B PB; North, Kari E KE; Samani, Nilesh J NJ; Koenig, Wolfgang W; Gaunt, Tom R TR; Anand, Sonia S SS; van der Schouw, Yvonne T YT; , ; Soranzo, Nicole N; Fitzgerald, Garret A GA; Reiner, Alex A; Hegele, Robert A RA; Hakonarson, Hakon H; Keating, Brendan J BJ
Publication Date: 2011-01-07

Variant appearance in text: rs2075870
PubMed Link: 21194676
Variant Present in the following documents:
  • Main text
View BVdb publication page