TPM1 c.240+5645T>G

Variant ID: 15-63341996-T-G

NM_001018005.1(TPM1):c.240+5645T>G

This variant was identified in 10 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: rs11071720
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Tropomyosin 1 genetically constrains in vitro hematopoiesis.

Bmc Biology
Thom, Christopher Stephen CS; Jobaliya, Chintan D CD; Lorenz, Kimberly K; Maguire, Jean Ann JA; Gagne, Alyssa A; Gadue, Paul P; French, Deborah L DL; Voight, Benjamin Franklin BF
Publication Date: 2020-05-14

Variant appearance in text: rs11071720
PubMed Link: 32408895
Variant Present in the following documents:
  • Main text
  • 12915_2020_Article_783.pdf
View BVdb publication page



CERENKOV2: improved detection of functional noncoding SNPs using data-space geometric features.

Bmc Bioinformatics
Yao, Yao Y; Liu, Zheng Z; Wei, Qi Q; Ramsey, Stephen A SA
Publication Date: 2019-02-06

Variant appearance in text: rs11071720
PubMed Link: 30727967
Variant Present in the following documents:
  • Main text
  • 12859_2019_Article_2637.pdf
View BVdb publication page



Genetically Determined Platelet Count and Risk of Cardiovascular Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Gill, Dipender D; Monori, Grace G; Georgakis, Marios K MK; Tzoulaki, Ioanna I; Laffan, Mike M
Publication Date: 2018-12

Variant appearance in text: rs11071720
PubMed Link: 30571169
Variant Present in the following documents:
  • atv-38-2862-s001.pdf
View BVdb publication page



To ERV Is Human: A Phenotype-Wide Scan Linking Polymorphic Human Endogenous Retrovirus-K Insertions to Complex Phenotypes.

Frontiers In Genetics
Wallace, Amelia D AD; Wendt, George A GA; Barcellos, Lisa F LF; de Smith, Adam J AJ; Walsh, Kyle M KM; Metayer, Catherine C; Costello, Joseph F JF; Wiemels, Joseph L JL; Francis, Stephen S SS
Publication Date: 2018

Variant appearance in text: rs11071720
PubMed Link: 30154825
Variant Present in the following documents:
  • Main text
  • fgene-09-00298.pdf
View BVdb publication page



Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs11071720
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
View BVdb publication page



Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

Plos Genetics
Fehrmann, Rudolf S N RS; Jansen, Ritsert C RC; Veldink, Jan H JH; Westra, Harm-Jan HJ; Arends, Danny D; Bonder, Marc Jan MJ; Fu, Jingyuan J; Deelen, Patrick P; Groen, Harry J M HJ; Smolonska, Asia A; Weersma, Rinse K RK; Hofstra, Robert M W RM; Buurman, Wim A WA; Rensen, Sander S; Wolfs, Marcel G M MG; Platteel, Mathieu M; Zhernakova, Alexandra A; Elbers, Clara C CC; Festen, Eleanora M EM; Trynka, Gosia G; Hofker, Marten H MH; Saris, Christiaan G J CG; Ophoff, Roel A RA; van den Berg, Leonard H LH; van Heel, David A DA; Wijmenga, Cisca C; Te Meerman, Gerard J GJ; Franke, Lude L
Publication Date: 2011-08

Variant appearance in text: rs11071720
PubMed Link: 21829388
Variant Present in the following documents:
  • Main text
  • pgen.1002197.pdf
View BVdb publication page



Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.

Human Genetics
Lo, Ken Sin KS; Wilson, James G JG; Lange, Leslie A LA; Folsom, Aaron R AR; Galarneau, Geneviève G; Ganesh, Santhi K SK; Grant, Struan F A SF; Keating, Brendan J BJ; McCarroll, Steven A SA; Mohler, Emile R ER; O'Donnell, Christopher J CJ; Palmas, Walter W; Tang, Weihong W; Tracy, Russell P RP; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2011-03

Variant appearance in text: rs11071720
PubMed Link: 21153663
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of normal platelet reactivity.

Blood
Kunicki, Thomas J TJ; Nugent, Diane J DJ
Publication Date: 2010-10-14

Variant appearance in text: rs11071720
PubMed Link: 20610812
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

Nature Genetics
Soranzo, Nicole N; Spector, Tim D TD; Mangino, Massimo M; Kühnel, Brigitte B; Rendon, Augusto A; Teumer, Alexander A; Willenborg, Christina C; Wright, Benjamin B; Chen, Li L; Li, Mingyao M; Salo, Perttu P; Voight, Benjamin F BF; Burns, Philippa P; Laskowski, Roman A RA; Xue, Yali Y; Menzel, Stephan S; Altshuler, David D; Bradley, John R JR; Bumpstead, Suzannah S; Burnett, Mary-Susan MS; Devaney, Joseph J; Döring, Angela A; Elosua, Roberto R; Epstein, Stephen E SE; Erber, Wendy W; Falchi, Mario M; Garner, Stephen F SF; Ghori, Mohammed J R MJ; Goodall, Alison H AH; Gwilliam, Rhian R; Hakonarson, Hakon H HH; Hall, Alistair S AS; Hammond, Naomi N; Hengstenberg, Christian C; Illig, Thomas T; König, Inke R IR; Knouff, Christopher W CW; McPherson, Ruth R; Melander, Olle O; Mooser, Vincent V; Nauck, Matthias M; Nieminen, Markku S MS; O'Donnell, Christopher J CJ; Peltonen, Leena L; Potter, Simon C SC; Prokisch, Holger H; Rader, Daniel J DJ; Rice, Catherine M CM; Roberts, Robert R; Salomaa, Veikko V; Sambrook, Jennifer J; Schreiber, Stefan S; Schunkert, Heribert H; Schwartz, Stephen M SM; Serbanovic-Canic, Jovana J; Sinisalo, Juha J; Siscovick, David S DS; Stark, Klaus K; Surakka, Ida I; Stephens, Jonathan J; Thompson, John R JR; Völker, Uwe U; Völzke, Henry H; Watkins, Nicholas A NA; Wells, George A GA; Wichmann, H-Erich HE; Van Heel, David A DA; Tyler-Smith, Chris C; Thein, Swee Lay SL; Kathiresan, Sekar S; Perola, Markus M; Reilly, Muredach P MP; Stewart, Alexandre F R AF; Erdmann, Jeanette J; Samani, Nilesh J NJ; Meisinger, Christa C; Greinacher, Andreas A; Deloukas, Panos P; Ouwehand, Willem H WH; Gieger, Christian C
Publication Date: 2009-11

Variant appearance in text: rs11071720
PubMed Link: 19820697
Variant Present in the following documents:
  • Main text
View BVdb publication page