PC c.1-23101C>T

Variant ID: 11-66662731-G-A

NM_001040716.1(PC):c.1-23101C>T

This variant was identified in 7 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: rs7122539
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetically predicted bipolar disorder is causally associated with an increased risk of breast cancer: a two-sample Mendelian randomization analysis.

Annals Of Translational Medicine
Peng, Haoxin H; Wu, Xiangrong X; Ge, Fan F; Huo, Zhenyu Z; Wen, Yaokai Y; Li, Caichen C; Lin, Jinsheng J; Liang, Hengrui H; Zhong, Ran R; Liu, Jun J; Wang, Runchen R; He, Jianxing J; Liang, Wenhua W
Publication Date: 2021-03

Variant appearance in text: rs7122539
PubMed Link: 33842622
Variant Present in the following documents:
  • Main text
  • atm-09-05-401.pdf
View BVdb publication page



Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis.

Brain Sciences
Lee, Jinhee J; Son, Min Ji MJ; Son, Chei Yun CY; Jeong, Gwang Hun GH; Lee, Keum Hwa KH; Lee, Kwang Seob KS; Ko, Younhee Y; Kim, Jong Yeob JY; Lee, Jun Young JY; Radua, Joaquim J; Eisenhut, Michael M; Gressier, Florence F; Koyanagi, Ai A; Stubbs, Brendon B; Solmi, Marco M; Rais, Theodor B TB; Kronbichler, Andreas A; Dragioti, Elena E; Vasconcelos, Daniel Fernando Pereira DFP; Silva, Felipe Rodolfo Pereira da FRPD; Tizaoui, Kalthoum K; Brunoni, André Russowsky AR; Carvalho, Andre F AF; Cargnin, Sarah S; Terrazzino, Salvatore S; Stickley, Andrew A; Smith, Lee L; Thompson, Trevor T; Shin, Jae Il JI; Fusar-Poli, Paolo P
Publication Date: 2020-09-30

Variant appearance in text: rs7122539
PubMed Link: 33007889
Variant Present in the following documents:
  • Main text
  • brainsci-10-00692.pdf
View BVdb publication page



Genome-wide association study identifies 30 loci associated with bipolar disorder.

Nature Genetics
Stahl, Eli A EA; Breen, Gerome G; Forstner, Andreas J AJ; McQuillin, Andrew A; Ripke, Stephan S; Trubetskoy, Vassily V; Mattheisen, Manuel M; Wang, Yunpeng Y; Coleman, Jonathan R I JRI; Gaspar, Héléna A HA; de Leeuw, Christiaan A CA; Steinberg, Stacy S; Pavlides, Jennifer M Whitehead JMW; Trzaskowski, Maciej M; Byrne, Enda M EM; Pers, Tune H TH; Holmans, Peter A PA; Richards, Alexander L AL; Abbott, Liam L; Agerbo, Esben E; Akil, Huda H; Albani, Diego D; Alliey-Rodriguez, Ney N; Als, Thomas D TD; Anjorin, Adebayo A; Antilla, Verneri V; Awasthi, Swapnil S; Badner, Judith A JA; Bækvad-Hansen, Marie M; Barchas, Jack D JD; Bass, Nicholas N; Bauer, Michael M; Belliveau, Richard R; Bergen, Sarah E SE; Pedersen, Carsten Bøcker CB; Bøen, Erlend E; Boks, Marco P MP; Boocock, James J; Budde, Monika M; Bunney, William W; Burmeister, Margit M; Bybjerg-Grauholm, Jonas J; Byerley, William W; Casas, Miquel M; Cerrato, Felecia F; Cervantes, Pablo P; Chambert, Kimberly K; Charney, Alexander W AW; Chen, Danfeng D; Churchhouse, Claire C; Clarke, Toni-Kim TK; Coryell, William W; Craig, David W DW; Cruceanu, Cristiana C; Curtis, David D; Czerski, Piotr M PM; Dale, Anders M AM; de Jong, Simone S; Degenhardt, Franziska F; Del-Favero, Jurgen J; DePaulo, J Raymond JR; Djurovic, Srdjan S; Dobbyn, Amanda L AL; Dumont, Ashley A; Elvsåshagen, Torbjørn T; Escott-Price, Valentina V; Fan, Chun Chieh CC; Fischer, Sascha B SB; Flickinger, Matthew M; Foroud, Tatiana M TM; Forty, Liz L; Frank, Josef J; Fraser, Christine C; Freimer, Nelson B NB; Frisén, Louise L; Gade, Katrin K; Gage, Diane D; Garnham, Julie J; Giambartolomei, Claudia C; Pedersen, Marianne Giørtz MG; Goldstein, Jaqueline J; Gordon, Scott D SD; Gordon-Smith, Katherine K; Green, Elaine K EK; Green, Melissa J MJ; Greenwood, Tiffany A TA; Grove, Jakob J; Guan, Weihua W; Guzman-Parra, José J; Hamshere, Marian L ML; Hautzinger, Martin M; Heilbronner, Urs U; Herms, Stefan S; Hipolito, Maria M; Hoffmann, Per P; Holland, Dominic D; Huckins, Laura L; Jamain, Stéphane S; Johnson, Jessica S JS; Juréus, Anders A; Kandaswamy, Radhika R; Karlsson, Robert R; Kennedy, James L JL; Kittel-Schneider, Sarah S; Knowles, James A JA; Kogevinas, Manolis M; Koller, Anna C AC; Kupka, Ralph R; Lavebratt, Catharina C; Lawrence, Jacob J; Lawson, William B WB; Leber, Markus M; Lee, Phil H PH; Levy, Shawn E SE; Li, Jun Z JZ; Liu, Chunyu C; Lucae, Susanne S; Maaser, Anna A; MacIntyre, Donald J DJ; Mahon, Pamela B PB; Maier, Wolfgang W; Martinsson, Lina L; McCarroll, Steve S; McGuffin, Peter P; McInnis, Melvin G MG; McKay, James D JD; Medeiros, Helena H; Medland, Sarah E SE; Meng, Fan F; Milani, Lili L; Montgomery, Grant W GW; Morris, Derek W DW; Mühleisen, Thomas W TW; Mullins, Niamh N; Nguyen, Hoang H; Nievergelt, Caroline M CM; Adolfsson, Annelie Nordin AN; Nwulia, Evaristus A EA; O'Donovan, Claire C; Loohuis, Loes M Olde LMO; Ori, Anil P S APS; Oruc, Lilijana L; Ösby, Urban U; Perlis, Roy H RH; Perry, Amy A; Pfennig, Andrea A; Potash, James B JB; Purcell, Shaun M SM; Regeer, Eline J EJ; Reif, Andreas A; Reinbold, Céline S CS; Rice, John P JP; Rivas, Fabio F; Rivera, Margarita M; Roussos, Panos P; Ruderfer, Douglas M DM; Ryu, Euijung E; Sánchez-Mora, Cristina C; Schatzberg, Alan F AF; Scheftner, William A WA; Schork, Nicholas J NJ; Shannon Weickert, Cynthia C; Shehktman, Tatyana T; Shilling, Paul D PD; Sigurdsson, Engilbert E; Slaney, Claire C; Smeland, Olav B OB; Sobell, Janet L JL; Søholm Hansen, Christine C; Spijker, Anne T AT; St Clair, David D; Steffens, Michael M; Strauss, John S JS; Streit, Fabian F; Strohmaier, Jana J; Szelinger, Szabolcs S; Thompson, Robert C RC; Thorgeirsson, Thorgeir E TE; Treutlein, Jens J; Vedder, Helmut H; Wang, Weiqing W; Watson, Stanley J SJ; Weickert, Thomas W TW; Witt, Stephanie H SH; Xi, Simon S; Xu, Wei W; Young, Allan H AH; Zandi, Peter P; Zhang, Peng P; Zöllner, Sebastian S; , ; , ; Adolfsson, Rolf R; Agartz, Ingrid I; Alda, Martin M; Backlund, Lena L; Baune, Bernhard T BT; Bellivier, Frank F; Berrettini, Wade H WH; Biernacka, Joanna M JM; Blackwood, Douglas H R DHR; Boehnke, Michael M; Børglum, Anders D AD; Corvin, Aiden A; Craddock, Nicholas N; Daly, Mark J MJ; Dannlowski, Udo U; Esko, Tõnu T; Etain, Bruno B; Frye, Mark M; Fullerton, Janice M JM; Gershon, Elliot S ES; Gill, Michael M; Goes, Fernando F; Grigoroiu-Serbanescu, Maria M; Hauser, Joanna J; Hougaard, David M DM; Hultman, Christina M CM; Jones, Ian I; Jones, Lisa A LA; Kahn, René S RS; Kirov, George G; Landén, Mikael M; Leboyer, Marion M; Lewis, Cathryn M CM; Li, Qingqin S QS; Lissowska, Jolanta J; Martin, Nicholas G NG; Mayoral, Fermin F; McElroy, Susan L SL; McIntosh, Andrew M AM; McMahon, Francis J FJ; Melle, Ingrid I; Metspalu, Andres A; Mitchell, Philip B PB; Morken, Gunnar G; Mors, Ole O; Mortensen, Preben Bo PB; Müller-Myhsok, Bertram B; Myers, Richard M RM; Neale, Benjamin M BM; Nimgaonkar, Vishwajit V; Nordentoft, Merete M; Nöthen, Markus M MM; O'Donovan, Michael C MC; Oedegaard, Ketil J KJ; Owen, Michael J MJ; Paciga, Sara A SA; Pato, Carlos C; Pato, Michele T MT; Posthuma, Danielle D; Ramos-Quiroga, Josep Antoni JA; Ribasés, Marta M; Rietschel, Marcella M; Rouleau, Guy A GA; Schalling, Martin M; Schofield, Peter R PR; Schulze, Thomas G TG; Serretti, Alessandro A; Smoller, Jordan W JW; Stefansson, Hreinn H; Stefansson, Kari K; Stordal, Eystein E; Sullivan, Patrick F PF; Turecki, Gustavo G; Vaaler, Arne E AE; Vieta, Eduard E; Vincent, John B JB; Werge, Thomas T; Nurnberger, John I JI; Wray, Naomi R NR; Di Florio, Arianna A; Edenberg, Howard J HJ; Cichon, Sven S; Ophoff, Roel A RA; Scott, Laura J LJ; Andreassen, Ole A OA; Kelsoe, John J; Sklar, Pamela P; ,
Publication Date: 2019-05

Variant appearance in text: rs7122539
PubMed Link: 31043756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replicated associations of FADS1, MAD1L1, and a rare variant at 10q26.13 with bipolar disorder in Chinese population.

Translational Psychiatry
Zhao, Lijuan L; Chang, Hong H; Zhou, Dong-Sheng DS; Cai, Jun J; Fan, Weixing W; Tang, Wei W; Tang, Wenxin W; Li, Xingxing X; Liu, Weiqing W; Liu, Fang F; He, Yuanfang Y; Bai, Yan Y; Sun, Yan Y; Dai, Jiapei J; Li, Lingyi L; Xiao, Xiao X; Zhang, Chen C; Li, Ming M
Publication Date: 2018-12-07

Variant appearance in text: rs7122539
PubMed Link: 30531795
Variant Present in the following documents:
  • Main text
  • 41398_2018_Article_337.pdf
View BVdb publication page



An examination of multiple classes of rare variants in extended families with bipolar disorder.

Translational Psychiatry
Toma, Claudio C; Shaw, Alex D AD; Allcock, Richard J N RJN; Heath, Anna A; Pierce, Kerrie D KD; Mitchell, Philip B PB; Schofield, Peter R PR; Fullerton, Janice M JM
Publication Date: 2018-03-13

Variant appearance in text: rs7122539
PubMed Link: 29531218
Variant Present in the following documents:
  • Main text
  • 41398_2018_Article_113.pdf
View BVdb publication page



Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients.

Blood
Gamazon, Eric R ER; Lamba, Jatinder K JK; Pounds, Stanley S; Stark, Amy L AL; Wheeler, Heather E HE; Cao, Xueyuan X; Im, Hae K HK; Mitra, Amit K AK; Rubnitz, Jeffrey E JE; Ribeiro, Raul C RC; Raimondi, Susana S; Campana, Dario D; Crews, Kristine R KR; Wong, Shan S SS; Welsh, Marleen M; Hulur, Imge I; Gorsic, Lidija L; Hartford, Christine M CM; Zhang, Wei W; Cox, Nancy J NJ; Dolan, M Eileen ME
Publication Date: 2013-05-23

Variant appearance in text: rs7122539
PubMed Link: 23538338
Variant Present in the following documents:
  • Main text
View BVdb publication page