NF1 c.5696G>A ;(p.C1899Y)

Variant ID: 17-29657400-G-A

NM_001042492.2(NF1):c.5696G>A;(p.C1899Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Conjunctival Melanoma: Update on Genetics, Epigenetics and Targeted Molecular and Immune-Based Therapies.

Clinical Ophthalmology (Auckland, N.Z.)
Gkiala, Anastasia A; Palioura, Sotiria S
Publication Date: 2020

Variant appearance in text: NF1: C1899Y
PubMed Link: 33116365
Variant Present in the following documents:
  • Main text
  • opth-14-3137.pdf
View BVdb publication page



NF1 mutations in conjunctival melanoma.

British Journal Of Cancer
Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG
Publication Date: 2018-05

Variant appearance in text: NF1: 5696G>A; Cys1899Tyr
PubMed Link: 29559732
Variant Present in the following documents:
  • Main text
  • 41416_2018_Article_46.pdf
  • 41416_2018_46_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page