NF1 c.2382T>A ;(p.Y794*)

Variant ID: 17-29554597-T-A

NM_001042492.2(NF1):c.2382T>A;(p.Y794*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: NF1: Y794*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.

Scientific Reports
Casey, Ruth T RT; Ten Hoopen, Rogier R; Ochoa, Eguzkine E; Challis, Benjamin G BG; Whitworth, James J; Smith, Philip S PS; Martin, Jose Ezequiel JE; Clark, Graeme R GR; Rodger, Fay F; Maranian, Mel M; Allinson, Kieren K; Madhu, Basetti B; Roberts, Thomas T; Campos, Luis L; Anstee, Joanne J; Park, Soo-Mi SM; Marker, Alison A; Watts, Colin C; Bulusu, Venkata R VR; Giger, Olivier T OT; Maher, Eamonn R ER
Publication Date: 2019-07-15

Variant appearance in text: NF1: Tyr794Ter
PubMed Link: 31308404
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_46124.pdf
View BVdb publication page