NF1 c.1846C>G ;(p.Q616E)

Variant ID: 17-29552113-C-G

NM_001042492.2(NF1):c.1846C>G;(p.Q616E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Genes
Stella, Alessandro A; Lastella, Patrizia P; Loconte, Daria Carmela DC; Bukvic, Nenad N; Varvara, Dora D; Patruno, Margherita M; Bagnulo, Rosanna R; Lovaglio, Rosaura R; Bartolomeo, Nicola N; Serio, Gabriella G; Resta, Nicoletta N
Publication Date: 2018-04-17

Variant appearance in text: NF1: 1846C>G; Gln616Glu
PubMed Link: 29673180
Variant Present in the following documents:
  • Main text
  • genes-09-00216.pdf
View BVdb publication page



Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics
Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH
Publication Date: 2017-10

Variant appearance in text: NF1: 1846C>G; Gln616Glu
PubMed Link: 28955729
Variant Present in the following documents:
  • supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
View BVdb publication page