C3 c.3647-123G>A

Variant ID: 19-6686421-C-T

NM_000064.2(C3):c.3647-123G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.

Frontiers In Genetics
Kulminski, Alexander M AM; Loika, Yury Y; Huang, Jian J; Arbeev, Konstantin G KG; Bagley, Olivia O; Ukraintseva, Svetlana S; Yashin, Anatoliy I AI; Culminskaya, Irina I
Publication Date: 2019

Variant appearance in text: rs11666133
PubMed Link: 31134135
Variant Present in the following documents:
  • Main text
  • fgene-10-00433.pdf
View BVdb publication page



Therapeutic targeting of ependymoma as informed by oncogenic enhancer profiling.

Nature
Mack, Stephen C SC; Pajtler, Kristian W KW; Chavez, Lukas L; Okonechnikov, Konstantin K; Bertrand, Kelsey C KC; Wang, Xiuxing X; Erkek, Serap S; Federation, Alexander A; Song, Anne A; Lee, Christine C; Wang, Xin X; McDonald, Laura L; Morrow, James J JJ; Saiakhova, Alina A; Sin-Chan, Patrick P; Wu, Qiulian Q; Michaelraj, Kulandaimanuvel Antony KA; Miller, Tyler E TE; Hubert, Christopher G CG; Ryzhova, Marina M; Garzia, Livia L; Donovan, Laura L; Dombrowski, Stephen S; Factor, Daniel C DC; Luu, Betty B; Valentim, Claudia L L CLL; Gimple, Ryan C RC; Morton, Andrew A; Kim, Leo L; Prager, Briana C BC; Lee, John J Y JJY; Wu, Xiaochong X; Zuccaro, Jennifer J; Thompson, Yuan Y; Holgado, Borja L BL; Reimand, Jüri J; Ke, Susan Q SQ; Tropper, Adam A; Lai, Sisi S; Vijayarajah, Senthuran S; Doan, Sylvia S; Mahadev, Vaidehi V; Miñan, Ana Fernandez AF; Gröbner, Susanne N SN; Lienhard, Matthias M; Zapatka, Marc M; Huang, Zhiqin Z; Aldape, Kenneth D KD; Carcaboso, Angel M AM; Houghton, Peter J PJ; Keir, Stephen T ST; Milde, Till T; Witt, Hendrik H; Li, Yan Y; Li, Chao-Jun CJ; Bian, Xiu-Wu XW; Jones, David T W DTW; Scott, Ian I; Singh, Sheila K SK; Huang, Annie A; Dirks, Peter B PB; Bouffet, Eric E; Bradner, James E JE; Ramaswamy, Vijay V; Jabado, Nada N; Rutka, James T JT; Northcott, Paul A PA; Lupien, Mathieu M; Lichter, Peter P; Korshunov, Andrey A; Scacheri, Peter C PC; Pfister, Stefan M SM; Kool, Marcel M; Taylor, Michael D MD; Rich, Jeremy N JN
Publication Date: 2018-01-04

Variant appearance in text: rs11666133
PubMed Link: 29258295
Variant Present in the following documents:
  • NIHMS922534-supplement-Sup_Tables_1-23.xlsx, sheet 8
View BVdb publication page



Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.

G3 (Bethesda, Md.)
Shoemaker, Lorelei D LD; Clark, Michael J MJ; Patwardhan, Anil A; Chandratillake, Gemma G; Garcia, Sarah S; Chen, Rong R; Morgan, Alexander A AA; Leng, Nan N; Kirk, Scott S; Chen, Richard R; Cook, Douglas J DJ; Snyder, Michael M; Steinberg, Gary K GK
Publication Date: 2015-11-03

Variant appearance in text: rs11666133
PubMed Link: 26530418
Variant Present in the following documents:
  • 41.pdf
View BVdb publication page