NF1 c.907C>T ;(p.L303=)

Variant ID: 17-29527458-C-T

NM_001042492.2(NF1):c.907C>T;(p.L303=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: NF1: 907C>T
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: NF1: 907C>T
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications.

Bmc Medical Genetics
Löffler, Markus W MW; Steinhilber, Julia J; Hilke, Franz J FJ; Haen, Sebastian P SP; Bösmüller, Hans H; Montes-Mojarro, Ivonne-Aidee IA; Bonzheim, Irina I; Stäbler, Antje A; Faust, Ulrike U; Grasshoff, Ute U; Königsrainer, Ingmar I; Rammensee, Hans-Georg HG; Kanz, Lothar L; Königsrainer, Alfred A; Beckert, Stefan S; Riess, Olaf O; Schroeder, Christopher C
Publication Date: 2018-08-15

Variant appearance in text: NF1: 907C>T
PubMed Link: 30111295
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_651.pdf
View BVdb publication page