XRN2 c.2787+97A>G

Variant ID: 20-21367741-A-G

NM_012255.3(XRN2):c.2787+97A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: XRN2: 2787+97A>G; rs2296730
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.

Plos One
Lin, Shu-Hong SH; Sampson, Joshua N JN; Grünewald, Thomas G P TGP; Surdez, Didier D; Reynaud, Stephanie S; Mirabeau, Olivier O; Karlins, Eric E; Rubio, Rebeca Alba RA; Zaidi, Sakina S; Grossetête-Lalami, Sandrine S; Ballet, Stelly S; Lapouble, Eve E; Laurence, Valérie V; Michon, Jean J; Pierron, Gaelle G; Kovar, Heinrich H; Kontny, Udo U; González-Neira, Anna A; Alonso, Javier J; Patino-Garcia, Ana A; Corradini, Nadège N; Bérard, Perrine Marec PM; Miller, Jeremy J; Freedman, Neal D ND; Rothman, Nathaniel N; Carter, Brian D BD; Dagnall, Casey L CL; Burdett, Laurie L; Jones, Kristine K; Manning, Michelle M; Wyatt, Kathleen K; Zhou, Weiyin W; Yeager, Meredith M; Cox, David G DG; Hoover, Robert N RN; Khan, Javed J; Armstrong, Gregory T GT; Leisenring, Wendy M WM; Bhatia, Smita S; Robison, Leslie L LL; Kulozik, Andreas E AE; Kriebel, Jennifer J; Meitinger, Thomas T; Metzler, Markus M; Krumbholz, Manuela M; Hartmann, Wolfgang W; Strauch, Konstantin K; Kirchner, Thomas T; Dirksen, Uta U; Mirabello, Lisa L; Tucker, Margaret A MA; Tirode, Franck F; Morton, Lindsay M LM; Chanock, Stephen J SJ; Delattre, Olivier O; Machiela, Mitchell J MJ
Publication Date: 2020

Variant appearance in text: rs2296730
PubMed Link: 32881892
Variant Present in the following documents:
  • Main text
  • pone.0237792.pdf
View BVdb publication page