NF1 c.1226_1227del ;(p.V409Afs*19)

Variant ID: 17-29528466-ATG-A

NM_001042492.2(NF1):c.1226_1227del;(p.V409Afs*19)

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: 1225_1226delGT
PubMed Link: 22155606
Variant Present in the following documents:
  • 1479-7364-5-6-623.pdf
View BVdb publication page



Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

American Journal Of Human Genetics
Maertens, Ophélia O; De Schepper, Sofie S; Vandesompele, Jo J; Brems, Hilde H; Heyns, Ine I; Janssens, Sandra S; Speleman, Frank F; Legius, Eric E; Messiaen, Ludwine L
Publication Date: 2007-08

Variant appearance in text: NF1: 1226_1227del
PubMed Link: 17668375
Variant Present in the following documents:
  • Main text
View BVdb publication page