NF1 c.2093_2094del ;(p.P698Rfs*3)

Variant ID: 17-29553544-CCT-C

NM_001042492.2(NF1):c.2093_2094del;(p.P698Rfs*3)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.

Hereditary Cancer In Clinical Practice
Ponti, Giovanni G; Losi, Lorena L; Martorana, Davide D; Priola, Manuela M; Boni, Elisa E; Pollio, Annamaria A; Neri, Tauro Maria TM; Seidenari, Stefania S
Publication Date: 2011-08-12

Variant appearance in text: NF1: 2093_2094delCT; Pro698Argfs*3
PubMed Link: 21838856
Variant Present in the following documents:
  • Main text
  • 1897-4287-9-6.pdf
View BVdb publication page