NF1 c.7009C>T ;(p.L2337F)

Variant ID: 17-29667610-C-T

NM_001042492.2(NF1):c.7009C>T;(p.L2337F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas.

International Journal Of Molecular Sciences
Peterson, Cornelia C; Moore, Robert R; Hicks, Jessica L JL; Morsberger, Laura A LA; De Marzo, Angelo M AM; Zou, Ying Y; Eberhart, Charles G CG; Campbell, Ashley A AA
Publication Date: 2021-08-06

Variant appearance in text: NF1: L2337F
PubMed Link: 34445161
Variant Present in the following documents:
  • Main text
  • ijms-22-08454.pdf
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: rs367734104
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page