NF1 c.7162_7164del ;(p.F2388del)

Variant ID: 17-29670126-CTTT-C

NM_001042492.2(NF1):c.7162_7164del;(p.F2388del)

This variant was identified in 3 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: F2388del
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
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Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor.

Acta Neuropathologica Communications
Lucas, Calixto-Hope G CG; Gupta, Rohit R; Doo, Pamela P; Lee, Julieann C JC; Cadwell, Cathryn R CR; Ramani, Biswarathan B; Hofmann, Jeffrey W JW; Sloan, Emily A EA; Kleinschmidt-DeMasters, Bette K BK; Lee, Han S HS; Wood, Matthew D MD; Grafe, Marjorie M; Born, Donald D; Vogel, Hannes H; Salamat, Shahriar S; Puccetti, Diane D; Scharnhorst, David D; Samuel, David D; Cooney, Tabitha T; Cham, Elaine E; Jin, Lee-Way LW; Khatib, Ziad Z; Maher, Ossama O; Chamyan, Gabriel G; Brathwaite, Carole C; Bannykh, Serguei S; Mueller, Sabine S; Kline, Cassie N CN; Banerjee, Anu A; Reddy, Alyssa A; Taylor, Jennie W JW; Clarke, Jennifer L JL; Oberheim Bush, Nancy Ann NA; Butowski, Nicholas N; Gupta, Nalin N; Auguste, Kurtis I KI; Sun, Peter P PP; Roland, Jarod L JL; Raffel, Corey C; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward E; Hervey-Jumper, Shawn S; Phillips, Joanna J JJ; Pekmezci, Melike M; Bollen, Andrew W AW; Tihan, Tarik T; Chang, Susan S; Berger, Mitchel S MS; Perry, Arie A; Solomon, David A DA
Publication Date: 2020-08-28

Variant appearance in text: NF1: F2388del
PubMed Link: 32859279
Variant Present in the following documents:
  • 40478_2020_Article_1027.pdf
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Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Orphanet Journal Of Rare Diseases
Zhu, Guanghui G; Zheng, Yu Y; Liu, Yaoxi Y; Yan, An A; Hu, Zhengmao Z; Yang, Yongjia Y; Xiang, Shiting S; Li, Liping L; Chen, Weijian W; Peng, Yu Y; Zhong, Nanbert N; Mei, Haibo H
Publication Date: 2019-09-18

Variant appearance in text: NF1: Phe2388del
PubMed Link: 31533797
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1196.pdf
View BVdb publication page