RCL1 c.972-3248G>A

Variant ID: 9-4856877-G-A

NM_005772.3(RCL1):c.972-3248G>A

This variant was identified in 6 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: rs10758658
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis.

Journal Of The National Cancer Institute
Murphy, Neil N; Song, Mingyang M; Papadimitriou, Nikos N; Carreras-Torres, Robert R; Langenberg, Claudia C; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Barroso, Inês I; Chen, Ji J; Frayling, Timothy M TM; Bull, Caroline J CJ; Vincent, Emma E EE; Cotterchio, Michelle M; Gruber, Stephen B SB; Pai, Rish K RK; Newcomb, Polly A PA; Perez-Cornago, Aurora A; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Vodicka, Pavel P; Wolk, Alicja A; Wu, Anna H AH; Peters, Ulrike U; Chan, Andrew T AT; Gunter, Marc J MJ
Publication Date: 2022-05-09

Variant appearance in text: rs10758658
PubMed Link: 35048991
Variant Present in the following documents:
  • djac011_supplementary_data.pdf
View BVdb publication page



Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits.

Nature Genetics
Choudhuri, Avik A; Trompouki, Eirini E; Abraham, Brian J BJ; Colli, Leandro M LM; Kock, Kian Hong KH; Mallard, William W; Yang, Min-Lee ML; Vinjamur, Divya S DS; Ghamari, Alireza A; Sporrij, Audrey A; Hoi, Karen K; Hummel, Barbara B; Boatman, Sonja S; Chan, Victoria V; Tseng, Sierra S; Nandakumar, Satish K SK; Yang, Song S; Lichtig, Asher A; Superdock, Michael M; Grimes, Seraj N SN; Bowman, Teresa V TV; Zhou, Yi Y; Takahashi, Shinichiro S; Joehanes, Roby R; Cantor, Alan B AB; Bauer, Daniel E DE; Ganesh, Santhi K SK; Rinn, John J; Albert, Paul S PS; Bulyk, Martha L ML; Chanock, Stephen J SJ; Young, Richard A RA; Zon, Leonard I LI
Publication Date: 2020-12

Variant appearance in text: rs10758658
PubMed Link: 33230299
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic associations of hemoglobin in children with chronic kidney disease in the PediGFR Consortium.

Pediatric Research
Atkinson, Meredith A MA; Xiao, Rui R; Köttgen, Anna A; Wühl, Elke E; Wong, Craig S CS; Wuttke, Matthias M; Bayazit, Aysun K AK; Çalişkan, Salim S; Warady, Bradley A BA; Schaefer, Franz F; Furth, Susan L SL
Publication Date: 2019-02

Variant appearance in text: rs10758658
PubMed Link: 30140068
Variant Present in the following documents:
  • Main text
  • nihms-1503134.pdf
View BVdb publication page



Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature Genetics
Auer, Paul L PL; Teumer, Alexander A; Schick, Ursula U; O'Shaughnessy, Andrew A; Lo, Ken Sin KS; Chami, Nathalie N; Carlson, Chris C; de Denus, Simon S; Dubé, Marie-Pierre MP; Haessler, Jeff J; Jackson, Rebecca D RD; Kooperberg, Charles C; Perreault, Louis-Philippe Lemieux LP; Nauck, Matthias M; Peters, Ulrike U; Rioux, John D JD; Schmidt, Frank F; Turcot, Valérie V; Völker, Uwe U; Völzke, Henry H; Greinacher, Andreas A; Hsu, Li L; Tardif, Jean-Claude JC; Diaz, George A GA; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2014-06

Variant appearance in text: rs10758658
PubMed Link: 24777453
Variant Present in the following documents:
  • NIHMS581495-supplement-1.pdf
View BVdb publication page



Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

Nature Genetics
Ganesh, Santhi K SK; Zakai, Neil A NA; van Rooij, Frank J A FJ; Soranzo, Nicole N; Smith, Albert V AV; Nalls, Michael A MA; Chen, Ming-Huei MH; Kottgen, Anna A; Glazer, Nicole L NL; Dehghan, Abbas A; Kuhnel, Brigitte B; Aspelund, Thor T; Yang, Qiong Q; Tanaka, Toshiko T; Jaffe, Andrew A; Bis, Joshua C M JC; Verwoert, Germaine C GC; Teumer, Alexander A; Fox, Caroline S CS; Guralnik, Jack M JM; Ehret, Georg B GB; Rice, Kenneth K; Felix, Janine F JF; Rendon, Augusto A; Eiriksdottir, Gudny G; Levy, Daniel D; Patel, Kushang V KV; Boerwinkle, Eric E; Rotter, Jerome I JI; Hofman, Albert A; Sambrook, Jennifer G JG; Hernandez, Dena G DG; Zheng, Gang G; Bandinelli, Stefania S; Singleton, Andrew B AB; Coresh, Josef J; Lumley, Thomas T; Uitterlinden, André G AG; Vangils, Janine M JM; Launer, Lenore J LJ; Cupples, L Adrienne LA; Oostra, Ben A BA; Zwaginga, Jaap-Jan JJ; Ouwehand, Willem H WH; Thein, Swee-Lay SL; Meisinger, Christa C; Deloukas, Panos P; Nauck, Matthias M; Spector, Tim D TD; Gieger, Christian C; Gudnason, Vilmundur V; van Duijn, Cornelia M CM; Psaty, Bruce M BM; Ferrucci, Luigi L; Chakravarti, Aravinda A; Greinacher, Andreas A; O'Donnell, Christopher J CJ; Witteman, Jacqueline C M JC; Furth, Susan S; Cushman, Mary M; Harris, Tamara B TB; Lin, Jing-Ping JP
Publication Date: 2009-11

Variant appearance in text: rs10758658
PubMed Link: 19862010
Variant Present in the following documents:
  • Main text
  • nihms-145796.pdf
  • NIHMS145796-supplement-1.pdf
View BVdb publication page