NF1 c.2998C>A ;(p.R1000S)

Variant ID: 17-29557285-C-A

NM_001042492.2(NF1):c.2998C>A;(p.R1000S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.

Cancers
Gargallo, Pablo P; Oltra, Silvestre S; Yáñez, Yania Y; Juan-Ribelles, Antonio A; Calabria, Inés I; Segura, Vanessa V; Lázaro, Marián M; Balaguer, Julia J; Tormo, Teresa T; Dolz, Sandra S; Fernández, José María JM; Fuentes, Carolina C; Torres, Bárbara B; Andrés, Mara M; Tasso, María M; Castel, Victoria V; Font de Mora, Jaime J; Cañete, Adela A
Publication Date: 2021-10-24

Variant appearance in text: NF1: 2998C>A; R1000S
PubMed Link: 34771502
Variant Present in the following documents:
  • Main text
  • cancers-13-05339.pdf
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: NF1: 2998C>A; Arg1000Ser
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page