NF1 c.999C>A ;(p.Y333*)

Variant ID: 17-29527550-C-A

NM_001042492.2(NF1):c.999C>A;(p.Y333*)

This variant was identified in 3 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: 999C>A; Y333*
PubMed Link: 35945463
Variant Present in the following documents:
  • 401_2022_2478_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.

Medicine
Zhu, Lude L; Zhang, Yunfeng Y; Tong, Hanxing H; Shao, Minhua M; Gu, Yong Y; Du, Xufeng X; Wang, Peiru P; Shi, Lei L; Zhang, Linglin L; Bi, Mingye M; Wang, Xiuli X; Zhang, Guolong G
Publication Date: 2016-03

Variant appearance in text: NF1: 999C>A; Y333X
PubMed Link: 26962827
Variant Present in the following documents:
  • medi-95-e03043.pdf
View BVdb publication page



Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.

Jama
Mody, Rajen J RJ; Wu, Yi-Mi YM; Lonigro, Robert J RJ; Cao, Xuhong X; Roychowdhury, Sameek S; Vats, Pankaj P; Frank, Kevin M KM; Prensner, John R JR; Asangani, Irfan I; Palanisamy, Nallasivam N; Dillman, Jonathan R JR; Rabah, Raja M RM; Kunju, Laxmi Priya LP; Everett, Jessica J; Raymond, Victoria M VM; Ning, Yu Y; Su, Fengyun F; Wang, Rui R; Stoffel, Elena M EM; Innis, Jeffrey W JW; Roberts, J Scott JS; Robertson, Patricia L PL; Yanik, Gregory G; Chamdin, Aghiad A; Connelly, James A JA; Choi, Sung S; Harris, Andrew C AC; Kitko, Carrie C; Rao, Rama Jasty RJ; Levine, John E JE; Castle, Valerie P VP; Hutchinson, Raymond J RJ; Talpaz, Moshe M; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2015-09-01

Variant appearance in text: NF1: Y333*
PubMed Link: 26325560
Variant Present in the following documents:
  • Main text
View BVdb publication page