NF1 c.3047G>A ;(p.C1016Y)

Variant ID: 17-29557334-G-A

NM_001042492.2(NF1):c.3047G>A;(p.C1016Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cyclin-dependent kinase 7 is a therapeutic target in high-grade glioma.

Oncogenesis
Greenall, S A SA; Lim, Y C YC; Mitchell, C B CB; Ensbey, K S KS; Stringer, B W BW; Wilding, A L AL; O'Neill, G M GM; McDonald, K L KL; Gough, D J DJ; Day, B W BW; Johns, T G TG
Publication Date: 2017-05-15

Variant appearance in text: NF1: C1016Y
PubMed Link: 28504693
Variant Present in the following documents:
  • oncsis201733x1.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: NF1: C1016Y
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page