CYBB c.376T>C ;(p.C126R)

Variant ID: X-37652956-T-C

NM_000397.3(CYBB):c.376T>C;(p.C126R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Structure of the core human NADPH oxidase NOX2.

Nature Communications
Noreng, Sigrid S; Ota, Naruhisa N; Sun, Yonglian Y; Ho, Hoangdung H; Johnson, Matthew M; Arthur, Christopher P CP; Schneider, Kellen K; Lehoux, Isabelle I; Davies, Christopher W CW; Mortara, Kyle K; Wong, Kit K; Seshasayee, Dhaya D; Masureel, Matthieu M; Payandeh, Jian J; Yi, Tangsheng T; Koerber, James T JT
Publication Date: 2022-10-14

Variant appearance in text: NOX2: Cys126Arg
PubMed Link: 36241643
Variant Present in the following documents:
  • 41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page



Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Frontiers In Immunology
Chan, Koon-Wing KW; Wong, Chung-Yin CY; Leung, Daniel D; Yang, Xingtian X; Fok, Susanna F S SFS; Mak, Priscilla H S PHS; Yao, Lei L; Ma, Wen W; Mao, Huawei H; Zhao, Xiaodong X; Liang, Weiling W; Singh, Surjit S; Barbouche, Mohamed-Ridha MR; He, Jian-Xin JX; Jiang, Li-Ping LP; Liew, Woei-Kang WK; Le, Minh Huong Thi MHT; Muktiarti, Dina D; Santos-Ocampo, Fatima Johanna FJ; Djidjik, Reda R; Belaid, Brahim B; Ismail, Intan Hakimah IH; Abdul Latiff, Amir Hamzah AH; Lee, Way Seah WS; Chen, Tong-Xin TX; Liu, Jinrong J; Jin, Runming R; Wang, Xiaochuan X; Chien, Yin Hsiu YH; Yu, Hsin-Hui HH; Raj, Dinesh D; Raj, Revathi R; Vaughan, Jenifer J; Urban, Michael M; van den Berg, Sylvia S; Eley, Brian B; Lee, Anselm Chi-Wai AC; Isa, Mas Suhaila MS; Ang, Elizabeth Y EY; Lee, Bee Wah BW; Yeoh, Allen Eng Juh AEJ; Shek, Lynette P LP; Quynh Le, Nguyen Ngoc NN; Nguyen, Van Anh Thi VAT; Phan Nguyen Lien, Anh A; Capulong, Regina D RD; Mallillin, Joanne Michelle JM; Villanueva, Jose Carlo Miguel M JCMM; Camonayan, Karol Anne B KAB; Vera, Michelle De M; Casis-Hao, Roxanne J RJ; Lobo, Rommel Crisenio M RCM; Foronda, Ruby R; Binas, Vicky Wee Eng VWE; Boushaki, Soraya S; Kechout, Nadia N; Phongsamart, Gun G; Wongwaree, Siriporn S; Jiratchaya, Chamnanrua C; Lao-Araya, Mongkol M; Trakultivakorn, Muthita M; Suratannon, Narissara N; Jirapongsananuruk, Orathai O; Chantveerawong, Teerapol T; Kamchaisatian, Wasu W; Chan, Lee Lee LL; Koh, Mia Tuang MT; Wong, Ke Juin KJ; Fong, Siew Moy SM; Thong, Meow-Keong MK; Latiff, Zarina Abdul ZA; Noh, Lokman Mohd LM; de Silva, Rajiva R; Jouhadi, Zineb Z; Al-Saad, Khulood K; Vignesh, Pandiarajan P; Jindal, Ankur Kumar AK; Rawat, Amit A; Gupta, Anju A; Suri, Deepti D; Yang, Jing J; Au, Elaine Yuen-Ling EY; Kwok, Janette Siu-Yin JS; Chan, Siu-Yuen SY; Hui, Wayland Yuk-Fun WY; Chua, Gilbert T GT; Duque, Jaime Rosa JR; Cheong, Kai-Ning KN; Chong, Patrick Chun Yin PCY; Ho, Marco Hok Kung MHK; Lee, Tsz-Leung TL; Wong, Wilfred Hing-Sang WH; Yang, Wanling W; Lee, Pamela P PP; Tu, Wenwei W; Yang, Xi-Qiang XQ; Lau, Yu Lung YL
Publication Date: 2022

Variant appearance in text: CYBB: 376T>C; C126R
PubMed Link: 35874699
Variant Present in the following documents:
  • Main text
  • fimmu-13-883446.pdf
View BVdb publication page



Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.

Frontiers In Immunology
Chiu, Timothy Lok-Hin TL; Leung, Daniel D; Chan, Koon-Wing KW; Yeung, Hok Man HM; Wong, Chung-Yin CY; Mao, Huawei H; He, Jianxin J; Vignesh, Pandiarajan P; Liang, Weiling W; Liew, Woei Kang WK; Jiang, Li-Ping LP; Chen, Tong-Xin TX; Chen, Xiang-Yuan XY; Tao, Yin-Bo YB; Xu, Yong-Bin YB; Yu, Hsin-Hui HH; Terblanche, Alta A; Lung, David Christopher DC; Li, Cheng-Rong CR; Chen, Jing J; Tian, Man M; Eley, Brian B; Yang, Xingtian X; Yang, Jing J; Chiang, Wen Chin WC; Lee, Bee Wah BW; Suri, Deepti D; Rawat, Amit A; Gupta, Anju A; Singh, Surjit S; Wong, Wilfred Hing Sang WHS; Chua, Gilbert T GT; Duque, Jaime Sou Da Rosa JSDR; Cheong, Kai-Ning KN; Chong, Patrick Chun-Yin PC; Ho, Marco Hok-Kung MH; Lee, Tsz-Leung TL; Yang, Wanling W; Lee, Pamela P PP; Lau, Yu Lung YL
Publication Date: 2021

Variant appearance in text: CYBB: 376T>C
PubMed Link: 35140711
Variant Present in the following documents:
  • Main text
  • fimmu-12-803763.pdf
View BVdb publication page



Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease.

Journal Of Clinical Laboratory Analysis
Heydari, Atefeh A; Abolnezhadian, Farhad F; Sadeghi-Shabestari, Mahnaz M; Saberi, Alihossein A; Shamsizadeh, Ahmad A; Ghadiri, Ata A AA; Ghandil, Pegah P
Publication Date: 2021-02

Variant appearance in text: CYBB: C126R
PubMed Link: 33098164
Variant Present in the following documents:
  • JCLA-35-e23637.pdf
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A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy.

Frontiers In Pediatrics
de Albuquerque, Jose Antonio Tavares JAT; Lima, Alessandra Miramontes AM; de Oliveira Junior, Edgar Borges EB; Ishizuka, Edson Kiyotaka EK; Aragão-Filho, Walmir Cutrim WC; Bengala Zurro, Nuria N; Mayumi Chiba, Sônia S; Fernandes, Fátima Rodrigues FR; Condino-Neto, Antonio A
Publication Date: 2019

Variant appearance in text: CGD: C126R
PubMed Link: 31612120
Variant Present in the following documents:
  • fped-07-00391.pdf
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A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis.

Frontiers In Pediatrics
de Albuquerque, Jose Antonio Tavares JAT; de Oliveira Junior, Edgar Borges EB; Zurro, Nuria Bengala NB; Vendramini, Paola P; Ishizuka, Edson Kiyotaka EK; Borgli, Daniela de Souza Paiva DSP; de Souza, Monica Soares MS; Condino-Neto, Antonio A
Publication Date: 2018

Variant appearance in text: CYBB: 376T>C
PubMed Link: 30255005
Variant Present in the following documents:
  • Main text
  • fped-06-00248.pdf
View BVdb publication page



Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.

Journal Of Immunology Research
Wu, Jing J; Wang, Wei-Fan WF; Zhang, Yi-Dan YD; Chen, Tong-Xin TX
Publication Date: 2017

Variant appearance in text: CYBB: 376T>C
PubMed Link: 28251166
Variant Present in the following documents:
  • Main text
  • JIR2017-8745254.pdf
View BVdb publication page