NF1 c.1890A>C ;(p.V630=)

Variant ID: 17-29552157-A-C

NM_001042492.2(NF1):c.1890A>C;(p.V630=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology
Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H
Publication Date: 2022

Variant appearance in text: NF1: Val630=
PubMed Link: 36425562
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Molecular Therapy. Nucleic Acids
Leier, André A; Moore, Marc M; Liu, Hui H; Daniel, Michael M; Hyde, Alexis M AM; Messiaen, Ludwine L; Korf, Bruce R BR; Selvakumaran, Jamuna J; Ciszewski, Lukasz L; Lambert, Laura L; Foote, Jeremy J; Wallace, Margaret R MR; Kesterson, Robert A RA; Dickson, George G; Popplewell, Linda L; Wallis, Deeann D
Publication Date: 2022-06-14

Variant appearance in text: NF1: 1890A>C
PubMed Link: 35433111
Variant Present in the following documents:
  • Main text
View BVdb publication page