NF1 c.998dup ;(p.Y333*)

Variant ID: 17-29527548-T-TA

NM_001042492.2(NF1):c.998dup;(p.Y333*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

British Journal Of Cancer
Cifuentes, Guadalupe A GA; Santiago, Adrián A; Méndez Blanco, Lucía L; Fueyo, María M; López Martínez, Esther E; Soria, Raquel R; Martín López, Irene I; Cucarella Beltrán, Pepa P; Pardo-Coto, Pablo P; Rodriguez-Rubi, David D; Urquilla, Karla K; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Otero, Andrea A; Diñeiro, Marta M; Capín, Raquel R; Cadiñanos, Juan J; Cabanillas, Rubén R
Publication Date: 2022-12-22

Variant appearance in text: NF1: 998_999insA; Tyr333fs*1
PubMed Link: 36550207
Variant Present in the following documents:
  • 41416_2022_2102_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: 998dupA; Y333*
PubMed Link: 35945463
Variant Present in the following documents:
  • 401_2022_2478_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers
Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V
Publication Date: 2019-11-21

Variant appearance in text: NF1: 998_999insA; Tyr333*
PubMed Link: 31766501
Variant Present in the following documents:
  • Main text
  • cancers-11-01838.pdf
View BVdb publication page



Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics
Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH
Publication Date: 2017-10

Variant appearance in text: NF1: 998_999insA; Tyr333X
PubMed Link: 28955729
Variant Present in the following documents:
  • supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
View BVdb publication page



Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.

Oncotarget
Banerjee, Santasree S; Lei, Dongzhu D; Liang, Shengran S; Yang, Li L; Liu, Saijun S; Wei, Zhu Z; Tang, Jian Ping JP
Publication Date: 2017-06-13

Variant appearance in text: NF1: 997_998insA; Tyr333Ter
PubMed Link: 27980226
Variant Present in the following documents:
  • Main text
View BVdb publication page