NF1 c.593C>T ;(p.A198V)

Variant ID: 17-29508446-C-T

NM_001042492.2(NF1):c.593C>T;(p.A198V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Plasmablastic Lymphoma Associated with Adjacent Mature Plasma Cell Population Exhibiting Opposite Light Chain Restriction.

Case Reports In Pathology
Furlan, Karina K; Miller, Ira I; Mahon, Brett B; Ocampo Gonzalez, Fernando A FA; Ward, Nicholas N
Publication Date: 2020

Variant appearance in text: NF1: 593C>T
PubMed Link: 33489398
Variant Present in the following documents:
  • CRIPA2020-8875547.pdf
View BVdb publication page



Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Plos One
Saadeh, Fadi S FS; Morsi, Rami Z RZ; El-Kurdi, Abdallah A; Nemer, Georges G; Mahfouz, Rami R; Charafeddine, Maya M; Khoury, Jessica J; Najjar, Marwan W MW; Khoueiry, Pierre P; Assi, Hazem I HI
Publication Date: 2020

Variant appearance in text: NF1: A198V
PubMed Link: 33237934
Variant Present in the following documents:
  • pone.0242793.s003.xlsx, sheet 1
View BVdb publication page



Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases.

Diagnostic Pathology
Ding, Ying Y; Wang, Cong C; Li, Xuejie X; Jiang, Yangyang Y; Mei, Ping P; Huang, Wenbin W; Song, Guoxin G; Wang, Jinsong J; Ping, Guoqiang G; Hu, Ran R; Miao, Chen C; He, Xiao X; Chen, Gang G; Li, Hai H; Zhu, Yan Y; Zhang, Zhihong Z
Publication Date: 2018-08-16

Variant appearance in text: NF1: A198V
PubMed Link: 30111351
Variant Present in the following documents:
  • Main text
View BVdb publication page