NF1 c.4563T>A ;(p.Y1521*)

Variant ID: 17-29587519-T-A

NM_001042492.2(NF1):c.4563T>A;(p.Y1521*)

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: Y1521*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
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The initial assessment of expert panel performance in core hospitals for cancer genomic medicine in Japan.

International Journal Of Clinical Oncology
Sunami, Kuniko K; Naito, Yoichi Y; Aimono, Eriko E; Amano, Toraji T; Ennishi, Daisuke D; Kage, Hidenori H; Kanai, Masashi M; Komine, Keigo K; Koyama, Takafumi T; Maeda, Takahiro T; Morita, Sachi S; Sakai, Daisuke D; Kohsaka, Shinji S; Tsuchihara, Katsuya K; Yoshino, Takayuki T
Publication Date: 2021-03

Variant appearance in text: NF1: Y1521*
PubMed Link: 33385275
Variant Present in the following documents:
  • Main text
  • 10147_2020_Article_1844.pdf
View BVdb publication page