NF1 c.2602G>C ;(p.G868R)

Variant ID: 17-29556235-G-C

NM_001042492.2(NF1):c.2602G>C;(p.G868R)

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:

NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.

Human Molecular Genetics
Toonen, Joseph A JA; Anastasaki, Corina C; Smithson, Laura J LJ; Gianino, Scott M SM; Li, Kairong K; Kesterson, Robert A RA; Gutmann, David H DH
Publication Date: 2016-05-01

Variant appearance in text: NF1: G868R
PubMed Link: 26908603
Variant Present in the following documents:
  • Main text
View BVdb publication page