NF1 c.3419C>G ;(p.S1140*)

Variant ID: 17-29559822-C-G

NM_001042492.2(NF1):c.3419C>G;(p.S1140*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Publication Date: 2022-12-05

Variant appearance in text: NF1: S1140*
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17
View BVdb publication page



Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics
Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH
Publication Date: 2017-10

Variant appearance in text: NF1: 3419C>G; S1140X
PubMed Link: 28955729
Variant Present in the following documents:
  • supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.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: Ser1140X
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page