NF1 c.1799T>A ;(p.L600*)

Variant ID: 17-29550539-T-A

NM_001042492.2(NF1):c.1799T>A;(p.L600*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Genes
Buccoliero, Anna Maria AM; Giunti, Laura L; Moscardi, Selene S; Castiglione, Francesca F; Provenzano, Aldesia A; Sardi, Iacopo I; Scagnet, Mirko M; Genitori, Lorenzo L; Caporalini, Chiara C
Publication Date: 2022-03-31

Variant appearance in text: NF1: 1799T>A
PubMed Link: 35456430
Variant Present in the following documents:
  • Main text
View BVdb publication page



9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature.

Cold Spring Harbor Molecular Case Studies
Jensen, Marlene Richter MR; Stoltze, Ulrik U; Hansen, Thomas Van Overeem TVO; Bak, Mads M; Sehested, Astrid A; Rechnitzer, Catherine C; Mathiasen, René R; Scheie, David D; Larsen, Karen Bonde KB; Olsen, Tina Elisabeth TE; Muhic, Aida A; Skjøth-Rasmussen, Jane J; Rossing, Maria M; Schmiegelow, Kjeld K; Wadt, Karin K
Publication Date: 2022-06

Variant appearance in text: NF1: 1799T>A
PubMed Link: 35422439
Variant Present in the following documents:
  • MCS006164Jen.pdf
View BVdb publication page



Two simple and inexpensive methods for preparing DNA suitable for digital PCR from a small number of cells in 96-well plates.

Journal Of Clinical Laboratory Analysis
Zou, Ziang Z; Guo, Linna L; Ahmadi, Parimah P; Hartjen, Philip P; Gosau, Martin M; Smeets, Ralf R; Kluwe, Lan L
Publication Date: 2021-01

Variant appearance in text: NF1: 1799T>A
PubMed Link: 32761657
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: NF1: 1799T>A; L600*
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas.

Journal Of Clinical Medicine
Colombino, Maria M; Paliogiannis, Panagiotis P; Cossu, Antonio A; De Re, Valli V; Miolo, Gianmaria G; Botti, Gerardo G; Scognamiglio, Giosuè G; Ascierto, Paolo Antonio PA; Santeufemia, Davide Adriano DA; Fraggetta, Filippo F; Manca, Antonella A; Sini, Maria Cristina MC; Casula, Milena M; Palomba, Grazia G; Pisano, Marina M; Doneddu, Valentina V; Lissia, Amelia A; Fedeli, Maria Antonietta MA; Palmieri, Giuseppe G
Publication Date: 2019-10-01

Variant appearance in text: NF1: 1799T>A
PubMed Link: 31581559
Variant Present in the following documents:
  • jcm-08-01577-s001.pdf
View BVdb publication page



Pathologic and molecular aspects of anaplasia in circumscribed gliomas and glioneuronal tumors.

Brain Tumor Pathology
Pujadas, Elisabet E; Chen, Liam L; Rodriguez, Fausto J FJ
Publication Date: 2019-04

Variant appearance in text: NF1: 1799T>A
PubMed Link: 30859342
Variant Present in the following documents:
  • Main text
View BVdb publication page



A programmable method for massively parallel targeted sequencing.

Nucleic Acids Research
Hopmans, Erik S ES; Natsoulis, Georges G; Bell, John M JM; Grimes, Susan M SM; Sieh, Weiva W; Ji, Hanlee P HP
Publication Date: 2014-06

Variant appearance in text: NF1: 1799T>A
PubMed Link: 24782526
Variant Present in the following documents:
  • gku282.pdf
View BVdb publication page