NF1 c.5045del ;(p.C1682Lfs*16)

Variant ID: 17-29653047-TG-T

NM_001042492.2(NF1):c.5045del;(p.C1682Lfs*16)

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:

Granular cell astrocytoma: an aggressive IDH-wildtype diffuse glioma with molecular genetic features of primary glioblastoma.

Brain Pathology (Zurich, Switzerland)
Vizcaino, M Adelita MA; Palsgrove, Doreen N DN; Yuan, Ming M; Giannini, Caterina C; Cabrera-Aldana, Eibar Ernesto EE; Pallavajjala, Aparna A; Burger, Peter C PC; Rodriguez, Fausto J FJ
Publication Date: 2019-03

Variant appearance in text: NF1: C1682Lfs*16
PubMed Link: 30222900
Variant Present in the following documents:
  • Main text
View BVdb publication page