TBX2 c.1687-22C>T

Variant ID: 17-59485393-C-T

NM_005994.3(TBX2):c.1687-22C>T

This variant was identified in 16 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: rs2240736
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2240736
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2240736
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Blood pressure lowering and risk of new-onset type 2 diabetes: an individual participant data meta-analysis.

Lancet (London, England)
Nazarzadeh, Milad M; Bidel, Zeinab Z; Canoy, Dexter D; Copland, Emma E; Wamil, Malgorzata M; Majert, Jeannette J; Smith Byrne, Karl K; Sundström, Johan J; Teo, Koon K; Davis, Barry R BR; Chalmers, John J; Pepine, Carl J CJ; Dehghan, Abbas A; Bennett, Derrick A DA; Smith, George Davey GD; Rahimi, Kazem K; ,
Publication Date: 2021-11-13

Variant appearance in text: rs2240736
PubMed Link: 34774144
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: TBX2: 1687-22C>T; rs2240736
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report.

World Journal Of Clinical Cases
Wu, Jian J; Yuan, Yuan Y; Wang, Xin X; Shao, Dong-Ying DY; Liu, Li-Guo LG; He, Jian J; Li, Peng P
Publication Date: 2021-05-06

Variant appearance in text: rs2240736
PubMed Link: 33969094
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2240736
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2240736
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Wang, Yan Y; Wang, Ji-Guang JG
Publication Date: 2019-04

Variant appearance in text: rs2240736
PubMed Link: 31049317
Variant Present in the following documents:
  • Main text
View BVdb publication page



A multimodal approach to cardiovascular risk stratification in patients with type 2 diabetes incorporating retinal, genomic and clinical features.

Scientific Reports
Fetit, Ahmed E AE; Doney, Alexander S AS; Hogg, Stephen S; Wang, Ruixuan R; MacGillivray, Tom T; Wardlaw, Joanna M JM; Doubal, Fergus N FN; McKay, Gareth J GJ; McKenna, Stephen S; Trucco, Emanuele E
Publication Date: 2019-03-05

Variant appearance in text: rs2240736
PubMed Link: 30837638
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_40403.pdf
View BVdb publication page



Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology
Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB
Publication Date: 2018

Variant appearance in text: rs2240736
PubMed Link: 29666641
Variant Present in the following documents:
  • Main text
  • IJE2018-7259704.pdf
View BVdb publication page



Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos.

Scientific Reports
Sofer, Tamar T; Wong, Quenna Q; Hartwig, Fernando P FP; Taylor, Kent K; Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Levy, Daniel D; Kramer, Holly H; Lange, Leslie A LA; Horta, Bernardo L BL; , ; Kerr, Kathleen F KF; Reiner, Alex P AP; Franceschini, Nora N
Publication Date: 2017-09-04

Variant appearance in text: rs2240736
PubMed Link: 28871152
Variant Present in the following documents:
  • 41598_2017_9019_MOESM1_ESM.pdf
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: rs2240736
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs2240736
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2240736
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

Nature Genetics
Kato, Norihiro N; Loh, Marie M; Takeuchi, Fumihiko F; Verweij, Niek N; Wang, Xu X; Zhang, Weihua W; Kelly, Tanika N TN; Saleheen, Danish D; Lehne, Benjamin B; Leach, Irene Mateo IM; Drong, Alexander W AW; Abbott, James J; Wahl, Simone S; Tan, Sian-Tsung ST; Scott, William R WR; Campanella, Gianluca G; Chadeau-Hyam, Marc M; Afzal, Uzma U; Ahluwalia, Tarunveer S TS; Bonder, Marc Jan MJ; Chen, Peng P; Dehghan, Abbas A; Edwards, Todd L TL; Esko, Tõnu T; Go, Min Jin MJ; Harris, Sarah E SE; Hartiala, Jaana J; Kasela, Silva S; Kasturiratne, Anuradhani A; Khor, Chiea-Chuen CC; Kleber, Marcus E ME; Li, Huaixing H; Yu Mok, Zuan Z; Nakatochi, Masahiro M; Sapari, Nur Sabrina NS; Saxena, Richa R; Stewart, Alexandre F R AFR; Stolk, Lisette L; Tabara, Yasuharu Y; Teh, Ai Ling AL; Wu, Ying Y; Wu, Jer-Yuarn JY; Zhang, Yi Y; Aits, Imke I; Da Silva Couto Alves, Alexessander A; Das, Shikta S; Dorajoo, Rajkumar R; Hopewell, Jemma C JC; Kim, Yun Kyoung YK; Koivula, Robert W RW; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Nguyen, Quang N QN; Pereira, Mark A MA; Postmus, Iris I; Raitakari, Olli T OT; Scannell Bryan, Molly M; Scott, Robert A RA; Sorice, Rossella R; Tragante, Vinicius V; Traglia, Michela M; White, Jon J; Yamamoto, Ken K; Zhang, Yonghong Y; Adair, Linda S LS; Ahmed, Alauddin A; Akiyama, Koichi K; Asif, Rasheed R; Aung, Tin T; Barroso, Inês I; Bjonnes, Andrew A; Braun, Timothy R TR; Cai, Hui H; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Cheng, Ching-Yu CY; Chong, Yap-Seng YS; Collins, Rory R; Courtney, Regina R; Davies, Gail G; Delgado, Graciela G; Do, Loi D LD; Doevendans, Pieter A PA; Gansevoort, Ron T RT; Gao, Yu-Tang YT; Grammer, Tanja B TB; Grarup, Niels N; Grewal, Jagvir J; Gu, Dongfeng D; Wander, Gurpreet S GS; Hartikainen, Anna-Liisa AL; Hazen, Stanley L SL; He, Jing J; Heng, Chew-Kiat CK; Hixson, James E JE; Hofman, Albert A; Hsu, Chris C; Huang, Wei W; Husemoen, Lise L N LLN; Hwang, Joo-Yeon JY; Ichihara, Sahoko S; Igase, Michiya M; Isono, Masato M; Justesen, Johanne M JM; Katsuya, Tomohiro T; Kibriya, Muhammad G MG; Kim, Young Jin YJ; Kishimoto, Miyako M; Koh, Woon-Puay WP; Kohara, Katsuhiko K; Kumari, Meena M; Kwek, Kenneth K; Lee, Nanette R NR; Lee, Jeannette J; Liao, Jiemin J; Lieb, Wolfgang W; Liewald, David C M DCM; Matsubara, Tatsuaki T; Matsushita, Yumi Y; Meitinger, Thomas T; Mihailov, Evelin E; Milani, Lili L; Mills, Rebecca R; Mononen, Nina N; Müller-Nurasyid, Martina M; Nabika, Toru T; Nakashima, Eitaro E; Ng, Hong Kiat HK; Nikus, Kjell K; Nutile, Teresa T; Ohkubo, Takayoshi T; Ohnaka, Keizo K; Parish, Sarah S; Paternoster, Lavinia L; Peng, Hao H; Peters, Annette A; Pham, Son T ST; Pinidiyapathirage, Mohitha J MJ; Rahman, Mahfuzar M; Rakugi, Hiromi H; Rolandsson, Olov O; Ann Rozario, Michelle M; Ruggiero, Daniela D; Sala, Cinzia F CF; Sarju, Ralhan R; Shimokawa, Kazuro K; Snieder, Harold H; Sparsø, Thomas T; Spiering, Wilko W; Starr, John M JM; Stott, David J DJ; Stram, Daniel O DO; Sugiyama, Takao T; Szymczak, Silke S; Tang, W H Wilson WHW; Tong, Lin L; Trompet, Stella S; Turjanmaa, Väinö V; Ueshima, Hirotsugu H; Uitterlinden, André G AG; Umemura, Satoshi S; Vaarasmaki, Marja M; van Dam, Rob M RM; van Gilst, Wiek H WH; van Veldhuisen, Dirk J DJ; Viikari, Jorma S JS; Waldenberger, Melanie M; Wang, Yiqin Y; Wang, Aili A; Wilson, Rory R; Wong, Tien-Yin TY; Xiang, Yong-Bing YB; Yamaguchi, Shuhei S; Ye, Xingwang X; Young, Robin D RD; Young, Terri L TL; Yuan, Jian-Min JM; Zhou, Xueya X; Asselbergs, Folkert W FW; Ciullo, Marina M; Clarke, Robert R; Deloukas, Panos P; Franke, Andre A; Franks, Paul W PW; Franks, Steve S; Friedlander, Yechiel Y; Gross, Myron D MD; Guo, Zhirong Z; Hansen, Torben T; Jarvelin, Marjo-Riitta MR; Jørgensen, Torben T; Jukema, J Wouter JW; Kähönen, Mika M; Kajio, Hiroshi H; Kivimaki, Mika M; Lee, Jong-Young JY; Lehtimäki, Terho T; Linneberg, Allan A; Miki, Tetsuro T; Pedersen, Oluf O; Samani, Nilesh J NJ; Sørensen, Thorkild I A TIA; Takayanagi, Ryoichi R; Toniolo, Daniela D; , ; , ; , ; , ; Ahsan, Habibul H; Allayee, Hooman H; Chen, Yuan-Tsong YT; Danesh, John J; Deary, Ian J IJ; Franco, Oscar H OH; Franke, Lude L; Heijman, Bastiaan T BT; Holbrook, Joanna D JD; Isaacs, Aaron A; Kim, Bong-Jo BJ; Lin, Xu X; Liu, Jianjun J; März, Winfried W; Metspalu, Andres A; Mohlke, Karen L KL; Sanghera, Dharambir K DK; Shu, Xiao-Ou XO; van Meurs, Joyce B J JBJ; Vithana, Eranga E; Wickremasinghe, Ananda R AR; Wijmenga, Cisca C; Wolffenbuttel, Bruce H W BHW; Yokota, Mitsuhiro M; Zheng, Wei W; Zhu, Dingliang D; Vineis, Paolo P; Kyrtopoulos, Soterios A SA; Kleinjans, Jos C S JCS; McCarthy, Mark I MI; Soong, Richie R; Gieger, Christian C; Scott, James J; Teo, Yik-Ying YY; He, Jiang J; Elliott, Paul P; Tai, E Shyong ES; van der Harst, Pim P; Kooner, Jaspal S JS; Chambers, John C JC
Publication Date: 2015-11

Variant appearance in text: rs2240736
PubMed Link: 26390057
Variant Present in the following documents:
  • Main text
View BVdb publication page