NF1 c.5349T>A ;(p.Y1783*)

Variant ID: 17-29654597-T-A

NM_001042492.2(NF1):c.5349T>A;(p.Y1783*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Williams, Erik A EA; Montesion, Meagan M; Shah, Nikunj N; Sharaf, Radwa R; Pavlick, Dean C DC; Sokol, Ethan S ES; Alexander, Brian B; Venstrom, Jeff J; Elvin, Julia A JA; Ross, Jeffrey S JS; Williams, Kevin Jon KJ; Tse, Julie Y JY; Mochel, Mark C MC
Publication Date: 2020-12

Variant appearance in text: NF1: Y1783*
PubMed Link: 32483240
Variant Present in the following documents:
  • Main text
  • 41379_2020_Article_581.pdf
View BVdb publication page