NF1 c.3326T>A ;(p.L1109*)

Variant ID: 17-29559729-T-A

NM_001042492.2(NF1):c.3326T>A;(p.L1109*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: NF1: 3326T>A; Leu1109Ter
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation.

Neurology. Genetics
Ramirez, Erika E; Morris, Stephanie M SM; Turner, Tychele N TN; Gutmann, David H DH
Publication Date: 2021-06

Variant appearance in text: NF1: Leu1109X
PubMed Link: 33884301
Variant Present in the following documents:
  • Main text
View BVdb publication page