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

Variant ID: 17-29654597-T-G

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

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Acta Neuropathologica
Lucas, Calixto-Hope G CG; Sloan, Emily A EA; Gupta, Rohit R; Wu, Jasper J; Pratt, Drew D; Vasudevan, Harish N HN; Ravindranathan, Ajay A; Barreto, Jairo J; Williams, Erik A EA; Shai, Anny A; Whipple, Nicholas S NS; Bruggers, Carol S CS; Maher, Ossama O; Nabors, Burt B; Rodriguez, Michael M; Samuel, David D; Brown, Melandee M; Carmichael, Jason J; Lu, Rufei R; Mirchia, Kanish K; Sullivan, Daniel V DV; Pekmezci, Melike M; Tihan, Tarik T; Bollen, Andrew W AW; Perry, Arie A; Banerjee, Anuradha A; Mueller, Sabine S; Gupta, Nalin N; Hervey-Jumper, Shawn L SL; Oberheim Bush, Nancy Ann NA; Daras, Mariza M; Taylor, Jennie W JW; Butowski, Nicholas A NA; de Groot, John J; Clarke, Jennifer L JL; Raleigh, David R DR; Costello, Joseph F JF; Phillips, Joanna J JJ; Reddy, Alyssa T AT; Chang, Susan M SM; Berger, Mitchel S MS; Solomon, David A DA
Publication Date: 2022-10

Variant appearance in text: NF1: 5349T>G; Y1783*
PubMed Link: 35945463
Variant Present in the following documents:
  • 401_2022_2478_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



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