TBX2 c.663+268C>G

Variant ID: 17-59479580-C-G

NM_005994.3(TBX2):c.663+268C>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Nature Communications
Morris, Andrew P AP; Le, Thu H TH; Wu, Haojia H; Akbarov, Artur A; van der Most, Peter J PJ; Hemani, Gibran G; Smith, George Davey GD; Mahajan, Anubha A; Gaulton, Kyle J KJ; Nadkarni, Girish N GN; Valladares-Salgado, Adan A; Wacher-Rodarte, Niels N; Mychaleckyj, Josyf C JC; Dueker, Nicole D ND; Guo, Xiuqing X; Hai, Yang Y; Haessler, Jeffrey J; Kamatani, Yoichiro Y; Stilp, Adrienne M AM; Zhu, Gu G; Cook, James P JP; Ärnlöv, Johan J; Blanton, Susan H SH; de Borst, Martin H MH; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Cechova, Sylvia S; Charchar, Fadi J FJ; Chu, Pei-Lun PL; Damman, Jeffrey J; Eales, James J; Gharavi, Ali G AG; Giedraitis, Vilmantas V; Heath, Andrew C AC; Ipp, Eli E; Kiryluk, Krzysztof K; Kramer, Holly J HJ; Kubo, Michiaki M; Larsson, Anders A; Lindgren, Cecilia M CM; Lu, Yingchang Y; Madden, Pamela A F PAF; Montgomery, Grant W GW; Papanicolaou, George J GJ; Raffel, Leslie J LJ; Sacco, Ralph L RL; Sanchez, Elena E; Stark, Holger H; Sundstrom, Johan J; Taylor, Kent D KD; Xiang, Anny H AH; Zivkovic, Aleksandra A; Lind, Lars L; Ingelsson, Erik E; Martin, Nicholas G NG; Whitfield, John B JB; Cai, Jianwen J; Laurie, Cathy C CC; Okada, Yukinori Y; Matsuda, Koichi K; Kooperberg, Charles C; Chen, Yii-Der Ida YI; Rundek, Tatjana T; Rich, Stephen S SS; Loos, Ruth J F RJF; Parra, Esteban J EJ; Cruz, Miguel M; Rotter, Jerome I JI; Snieder, Harold H; Tomaszewski, Maciej M; Humphreys, Benjamin D BD; Franceschini, Nora N
Publication Date: 2019-01-03

Variant appearance in text: rs887258
PubMed Link: 30604766
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7867.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: TBX2: 663+268C>G; rs887258
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, 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: rs887258
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page