NF1 c.4016T>G ;(p.L1339R)

Variant ID: 17-29576043-T-G

NM_001042492.2(NF1):c.4016T>G;(p.L1339R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Ras-Specific GTPase-Activating Proteins-Structures, Mechanisms, and Interactions.

Cold Spring Harbor Perspectives In Medicine
Scheffzek, Klaus K; Shivalingaiah, Giridhar G
Publication Date: 2019-03-01

Variant appearance in text: NF1: L1339R
PubMed Link: 30104198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

Ebiomedicine
Evans, D G DG; Bowers, N N; Burkitt-Wright, E E; Miles, E E; Garg, S S; Scott-Kitching, V V; Penman-Splitt, M M; Dobbie, A A; Howard, E E; Ealing, J J; Vassalo, G G; Wallace, A J AJ; Newman, W W; , ; Huson, S M SM
Publication Date: 2016-05

Variant appearance in text: NF1: Leu1339Arg
PubMed Link: 27322474
Variant Present in the following documents:
  • Main text
View BVdb publication page