NOTCH1 c.3249C>G ;(p.C1083W)

Variant ID: 9-139402760-G-C

NM_017617.3(NOTCH1):c.3249C>G;(p.C1083W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prediction of steroid resistance and steroid dependence in nephrotic syndrome children.

Journal Of Translational Medicine
Zaorska, Katarzyna K; Zawierucha, Piotr P; Świerczewska, Monika M; Ostalska-Nowicka, Danuta D; Zachwieja, Jacek J; Nowicki, Michał M
Publication Date: 2021-03-30

Variant appearance in text: NOTCH1: 3249C>G; Cys1083Trp; rs139994842
PubMed Link: 33785019
Variant Present in the following documents:
  • Main text
  • 12967_2021_Article_2790.pdf
  • 12967_2021_2790_MOESM1_ESM.pdf
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: rs139994842
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development.

Scientific Reports
Liu, Yu-Fan YF; Chiang, Shang-Lun SL; Lin, Chien-Yu CY; Chang, Jan-Gowth JG; Chung, Chia-Min CM; Ko, Albert Min-Shan AM; Lin, You-Zhe YZ; Lee, Chien-Hung CH; Lee, Ka-Wo KW; Chen, Mu-Kuan MK; Hua, Chun-Hung CH; Tsai, Ming-Hsui MH; Chen, Yuan-Chien YC; Ko, Ying-Chin YC
Publication Date: 2016-04-01

Variant appearance in text: rs139994842
PubMed Link: 27035284
Variant Present in the following documents:
  • Main text
  • srep24014.pdf
View BVdb publication page