NF1 c.5402T>G ;(p.L1801*)

Variant ID: 17-29654650-T-G

NM_001042492.2(NF1):c.5402T>G;(p.L1801*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Patterns of genomic evolution in advanced melanoma.

Nature Communications
Birkeland, E E; Zhang, S S; Poduval, D D; Geisler, J J; Nakken, S S; Vodak, D D; Meza-Zepeda, L A LA; Hovig, E E; Myklebost, O O; Knappskog, S S; Lønning, P E PE
Publication Date: 2018-07-10

Variant appearance in text: NF1: L1801X
PubMed Link: 29991680
Variant Present in the following documents:
  • 41467_2018_5063_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Leukemia
Bolli, Niccolo N; Biancon, Giulia G; Moarii, Matahi M; Gimondi, Silvia S; Li, Yilong Y; de Philippis, Chiara C; Maura, Francesco F; Sathiaseelan, Vijitha V; Tai, Yu-Tzu YT; Mudie, Laura L; O'Meara, Sarah S; Raine, Keiran K; Teague, Jon W JW; Butler, Adam P AP; Carniti, Cristiana C; Gerstung, Moritz M; Bagratuni, Tina T; Kastritis, Efstathios E; Dimopoulos, Meletios M; Corradini, Paolo P; Anderson, Kenneth C KC; Moreau, Philippe P; Minvielle, Stephane S; Campbell, Peter J PJ; Papaemmanuil, Elli E; Avet-Loiseau, Herve H; Munshi, Nikhil C NC
Publication Date: 2018-12

Variant appearance in text: NF1: L1801*
PubMed Link: 29789651
Variant Present in the following documents:
  • 41375_2018_37_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page