NF1 c.586G>T ;(p.E196*)

Variant ID: 17-29497015-G-T

NM_001042492.2(NF1):c.586G>T;(p.E196*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Clinical and molecular characteristics of Chinese non-small cell lung cancer patients with ERBB2 transmembrane domain mutations.

Molecular Oncology
Fan, Yun Y; Qiu, Jinrong J; Yu, Ruoying R; Cao, Ran R; Chen, Xiaoxi X; Ou, Qiuxiang Q; Wu, Xue X; Shao, Yang W YW; Nagasaka, Misako M; Zhang, Jiexia J; Ou, Sai-Hong Ignatius SI
Publication Date: 2020-08

Variant appearance in text: NF1: 586G>T; E196*
PubMed Link: 32478891
Variant Present in the following documents:
  • MOL2-14-1731-s002.xlsx, sheet 1
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: 586G>T; Glu196*
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page



Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Genes
Stella, Alessandro A; Lastella, Patrizia P; Loconte, Daria Carmela DC; Bukvic, Nenad N; Varvara, Dora D; Patruno, Margherita M; Bagnulo, Rosanna R; Lovaglio, Rosaura R; Bartolomeo, Nicola N; Serio, Gabriella G; Resta, Nicoletta N
Publication Date: 2018-04-17

Variant appearance in text: NF1: 586G>T
PubMed Link: 29673180
Variant Present in the following documents:
  • Main text
  • genes-09-00216.pdf
View BVdb publication page



Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10

Variant appearance in text: NF1: Glu196X
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page