NF1 c.2158C>T ;(p.R720W)

Variant ID: 17-29553609-C-T

NM_001042492.2(NF1):c.2158C>T;(p.R720W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research
Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K
Publication Date: 2019

Variant appearance in text: NF1: 2158C>T; Arg720Trp
PubMed Link: 31827798
Variant Present in the following documents:
  • 40364_2019_176_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10

Variant appearance in text: rs759679443
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page