NF1 c.3732del ;(p.T1245Lfs*21)

Variant ID: 17-29562650-GT-G

NM_001042492.2(NF1):c.3732del;(p.T1245Lfs*21)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 3732delT; Thr1245Leufsx21
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page



Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

European Journal Of Human Genetics : Ejhg
Thomas, Laura L; Spurlock, Gill G; Eudall, Claire C; Thomas, Nick S NS; Mort, Matthew M; Hamby, Stephen E SE; Chuzhanova, Nadia N; Brems, Hilde H; Legius, Eric E; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2012-04

Variant appearance in text: NF1: 3731delT
PubMed Link: 22108604
Variant Present in the following documents:
  • Main text
View BVdb publication page