NF1 c.5286_5344del ;(p.Q1763Lfs*7)

Variant ID: 17-29654534-TCCAAGTAACTTCAGCAGAGCGAACAAAAGTCCTAGGGCAATCAGTCTTTCTAAATGACA-T

NM_001042492.2(NF1):c.5286_5344del;(p.Q1763Lfs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology
Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM
Publication Date: 2020-10

Variant appearance in text: NF1: 5285_5345del
PubMed Link: 32666581
Variant Present in the following documents:
  • Main text
  • PATH-252-151.pdf
  • PATH-252-151-s001.xlsx, sheet 3
View BVdb publication page