WAS c.121C>T ;(p.R41*)

Variant ID: X-48542363-C-T

NM_000377.2(WAS):c.121C>T;(p.R41*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: WAS: 121C>T
PubMed Link: 35874699
Variant Present in the following documents:
  • Main text
  • fimmu-13-883446.pdf
View BVdb publication page



Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Frontiers In Immunology
Quinn, Jessica J; Modell, Vicki V; Johnson, Britt B; Poll, Sarah S; Aradhya, Swaroop S; Orange, Jordan S JS; Modell, Fred F
Publication Date: 2022

Variant appearance in text: WAS: 121C>T; Arg41*
PubMed Link: 35757720
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

The Application Of Clinical Genetics
Sudhakar, Murugan M; Rikhi, Rashmi R; Loganathan, Sathish Kumar SK; Suri, Deepti D; Singh, Surjit S
Publication Date: 2021

Variant appearance in text: WAS: R41*
PubMed Link: 34447261
Variant Present in the following documents:
  • Main text
  • tacg-14-363.pdf
View BVdb publication page



[Clinical features of Wiskott-Aldrich syndrome: an analysis of 13 cases].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Liu, Chao C; Chen, Xiao-Yan XY; Wu, Wen-Qi WQ; An, Wen-Bin WB; Chang, Li-Xian LX; Lan, Yang Y; Yi, Mei-Hui MH; Cai, Yu-Li YL; Feng, Jing J; Zhu, Xiao-Fan XF
Publication Date: 2019-05

Variant appearance in text: WAS: R41X
PubMed Link: 31104664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: WAS: R41*
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page