NF1 c.505_524del ;(p.E169*)

Variant ID: 17-29496927-TTGTTCAGAAGACAATGTTGA-T

NM_001042492.2(NF1):c.505_524del;(p.E169*)

This variant was identified in 1 publication

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: 505_524del; Glu169X
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page