NF1 c.6409del ;(p.S2137Hfs*13)

Variant ID: 17-29663912-GT-G

NM_001042492.2(NF1):c.6409del;(p.S2137Hfs*13)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 6409delT
PubMed Link: 22108604
Variant Present in the following documents:
  • Main text
View BVdb publication page