CYBB c.46_104del ;(p.L16Sfs*3)

Variant ID: X-37641341-GCTGGTTTGGCTGGGGTTGAACGTCTTCCTCTTTGTCTGGTATTACCGGGTTTATGATAT-G

NM_000397.3(CYBB):c.46_104del;(p.L16Sfs*3)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Preliminary study on chronic granulomatous disease in Sri Lanka.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Fernando, Shalinda Jude Arjuna SJA; Faiz, Noorul Mifra NM; Handunnetti, Shiroma Mangaika SM; De Silva, Aruna Dharshan AD; Dasanayake, Wasala Mudiyanselage Dhanushka Kumari WMDK; Wickramasinghe, Geethani Devika GD; Karunatilake, Rathnayake Mudiyanselage Chandima Hasanthi RMCH; de Silva, Nilhan Rajiva NR
Publication Date: 2018

Variant appearance in text: CYBB: Leu16_Gly47del
PubMed Link: 30237823
Variant Present in the following documents:
  • Main text
  • 13223_2018_Article_264.pdf
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: Leu16_Ala84del
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page