NF1 c.6512_6513insC ;(p.K2171Nfs*23)

Variant ID: 17-29664470-A-AC

NM_001042492.2(NF1):c.6512_6513insC;(p.K2171Nfs*23)

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: 6512insC
PubMed Link: 22108604
Variant Present in the following documents:
  • Main text
View BVdb publication page