NF1 c.5755G>T ;(p.E1919*)

Variant ID: 17-29657459-G-T

NM_001042492.2(NF1):c.5755G>T;(p.E1919*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications
Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM
Publication Date: 2020-11-10

Variant appearance in text: NF1: E1919*
PubMed Link: 33173047
Variant Present in the following documents:
  • 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Neuro-Oncology Advances
Cantero, Diana D; Mollejo, Manuela M; Sepúlveda, Juan M JM; D'Haene, Nicky N; Gutiérrez-Guamán, Myriam J MJ; Rodríguez de Lope, Ángel Á; Fiaño, Concepción C; Castresana, Javier S JS; Lebrun, Laetitia L; Rey, Juan A JA; Salmon, Isabelle I; Meléndez, Bárbara B; Hernández-Laín, Aurelio A
Publication Date: 2020

Variant appearance in text: NF1: 5755G>T; Glu1919Ter
PubMed Link: 32642724
Variant Present in the following documents:
  • vdz059_suppl_suplementary_table_2.xlsx, sheet 1
View BVdb publication page