NF1 c.3213_3214del ;(p.S1072Hfs*16)

Variant ID: 17-29559106-CAA-C

NM_001042492.2(NF1):c.3213_3214del;(p.S1072Hfs*16)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells.

Scientific Reports
Harigai, Ritsuko R; Sakai, Shigeki S; Nobusue, Hiroyuki H; Hirose, Chikako C; Sampetrean, Oltea O; Minami, Noriaki N; Hata, Yukie Y; Kasama, Takashi T; Hirose, Takanori T; Takenouchi, Toshiki T; Kosaki, Kenjiro K; Kishi, Kazuo K; Saya, Hideyuki H; Arima, Yoshimi Y
Publication Date: 2018-04-17

Variant appearance in text: NF1: 3213_3214delAA; Ser1072Hisfs*16
PubMed Link: 29666462
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_24484.pdf
View BVdb publication page



The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Genetic Testing And Molecular Biomarkers
Maruoka, Ryo R; Takenouchi, Toshiki T; Torii, Chiharu C; Shimizu, Atsushi A; Misu, Kumiko K; Higasa, Koichiro K; Matsuda, Fumihiko F; Ota, Arihito A; Tanito, Katsumi K; Kuramochi, Akira A; Arima, Yoshimi Y; Otsuka, Fujio F; Yoshida, Yuichi Y; Moriyama, Keiji K; Niimura, Michihito M; Saya, Hideyuki H; Kosaki, Kenjiro K
Publication Date: 2014-11

Variant appearance in text: NF1: 3213_3214delAA; Ser1072Hisfs
PubMed Link: 25325900
Variant Present in the following documents:
  • Main text
View BVdb publication page