NF1 c.419G>A ;(p.G140E)

Variant ID: 17-29490334-G-A

NM_001042492.2(NF1):c.419G>A;(p.G140E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Defining an embryonal rhabdomyosarcoma endotype.

Cold Spring Harbor Molecular Case Studies
Ricker, Cora A CA; Crawford, Kenneth K; Matlock, Kevin K; Lathara, Melvin M; Seguin, Bernard B; Rudzinski, Erin R ER; Berlow, Noah E NE; Keller, Charles C
Publication Date: 2020-04

Variant appearance in text: NF1: 419G>A; Gly140Glu
PubMed Link: 32238403
Variant Present in the following documents:
  • Main text
  • MCS005066Ric.pdf
View BVdb publication page



Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF
Publication Date: 2016-07-10

Variant appearance in text: NF1: 419G>A; G140E
PubMed Link: 27161972
Variant Present in the following documents:
  • supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1
View BVdb publication page