NF1 c.5729C>T ;(p.S1910F)

Variant ID: 17-29657433-C-T

NM_001042492.2(NF1):c.5729C>T;(p.S1910F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: NF1: 5729C>T; Ser1910Phe; rs751904277
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_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: rs751904277
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page