NF1 c.6293C>G ;(p.A2098G)

Variant ID: 17-29663798-C-G

NM_001042492.2(NF1):c.6293C>G;(p.A2098G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clonal hematopoiesis in primary immune thrombocytopenia.

Blood Cancer Journal
Wang, Yanming Y; Yu, Tianshu T; Dong, Qiaofeng Q; Liu, Shuang S; Yu, Yafei Y; Zhao, Hong Yu HY; Ma, Ji J; Dong, Lin L; Wang, Liang L; Ma, Daoxin D; Zhao, Yajing Y; Hou, Yu Y; Liu, Xinguang X; Peng, Jun J; Hou, Ming M
Publication Date: 2022-03-15

Variant appearance in text: NF1: A2098G
PubMed Link: 35293382
Variant Present in the following documents:
  • 41408_2022_641_MOESM1_ESM.pdf
View BVdb publication page



Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10

Variant appearance in text: rs764106639
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports
Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA
Publication Date: 2017-08-29

Variant appearance in text: NF1: A2098G
PubMed Link: 28852190
Variant Present in the following documents:
  • 41598_2017_10432_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page