TG c.3436C>T ;(p.P1146S)

Variant ID: 8-133913600-C-T

NM_003235.4(TG):c.3436C>T;(p.P1146S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: TG: 3436C>T
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Loss of CD11b Accelerates Lupus Nephritis in Lyn-Deficient Mice Without Disrupting Glomerular Leukocyte Trafficking.

Frontiers In Immunology
Gottschalk, Timothy A TA; Hall, Pamela P; Tsantikos, Evelyn E; L'Estrange-Stranieri, Elan E; Hickey, Michael J MJ; Hibbs, Margaret L ML
Publication Date: 2022

Variant appearance in text: TG: P1146S
PubMed Link: 35634296
Variant Present in the following documents:
  • Main text
  • fimmu-13-875359.pdf
View BVdb publication page



Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation.

Nature Communications
Li, Yanhe Y; Weng, Yuteng Y; Bai, Dandan D; Jia, Yanping Y; Liu, Yingdong Y; Zhang, Yalin Y; Kou, Xiaochen X; Zhao, Yanhong Y; Ruan, Jingling J; Chen, Jiayu J; Yin, Jiqing J; Wang, Hong H; Teng, Xiaoming X; Wang, Zuolin Z; Liu, Wenqiang W; Gao, Shaorong S
Publication Date: 2020-09-14

Variant appearance in text: TG: 3436C>T
PubMed Link: 32929070
Variant Present in the following documents:
  • 41467_2020_18391_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai.

Human Molecular Genetics
Yang, Wanling W; Zhao, Minghui M; Hirankarn, Nattiya N; Lau, Chak Sing CS; Mok, Chi Chiu CC; Chan, Tak Mao TM; Wong, Raymond W S RW; Lee, Ka Wing KW; Mok, Mo Yin MY; Wong, Sik Nin SN; Avihingsanon, Yingyos Y; Lin, Irene Oi IO; Lee, Tsz Leung TL; Ho, Marco Hok Kung MH; Lee, Pamela Pui Wah PP; Wong, Wilfred Hing Sang WH; Sham, Pak Chung PC; Lau, Yu Lung YL
Publication Date: 2009-06-01

Variant appearance in text: TG: P1146S
PubMed Link: 19286673
Variant Present in the following documents:
  • ddp118.pdf
View BVdb publication page