CYBB c.1314+2T>A

Variant ID: X-37664423-T-A

NM_000397.3(CYBB):c.1314+2T>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Lentiviral gene therapy for X-linked chronic granulomatous disease.

Nature Medicine
Kohn, Donald B DB; Booth, Claire C; Kang, Elizabeth M EM; Pai, Sung-Yun SY; Shaw, Kit L KL; Santilli, Giorgia G; Armant, Myriam M; Buckland, Karen F KF; Choi, Uimook U; De Ravin, Suk See SS; Dorsey, Morna J MJ; Kuo, Caroline Y CY; Leon-Rico, Diego D; Rivat, Christine C; Izotova, Natalia N; Gilmour, Kimberly K; Snell, Katie K; Dip, Jinhua Xu-Bayford JX; Darwish, Jinan J; Morris, Emma C EC; Terrazas, Dayna D; Wang, Leo D LD; Bauser, Christopher A CA; Paprotka, Tobias T; Kuhns, Douglas B DB; Gregg, John J; Raymond, Hayley E HE; Everett, John K JK; Honnet, Geraldine G; Biasco, Luca L; Newburger, Peter E PE; Bushman, Frederic D FD; Grez, Manuel M; Gaspar, H Bobby HB; Williams, David A DA; Malech, Harry L HL; Galy, Anne A; Thrasher, Adrian J AJ; ,
Publication Date: 2020-02

Variant appearance in text: CGD: 1314+2T>A
PubMed Link: 31988463
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI
Publication Date: 2010-10-15

Variant appearance in text: CGD: 1314+2T>A
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page