NF1 c.3888T>A ;(p.Y1296*)

Variant ID: 17-29562953-T-A

NM_001042492.2(NF1):c.3888T>A;(p.Y1296*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


High prevalence of clonal hematopoiesis-type genomic abnormalities in cell-free DNA in invasive gliomas after treatment.

International Journal Of Cancer
Okamura, Ryosuke R; Piccioni, David E DE; Boichard, Amélie A; Lee, Suzanna S; Jimenez, Rebecca E RE; Sicklick, Jason K JK; Kato, Shumei S; Kurzrock, Razelle R
Publication Date: 2021-06-01

Variant appearance in text: NF1: Y1296*
PubMed Link: 33497479
Variant Present in the following documents:
  • IJC-148-2839-s001.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: 3888T>A
PubMed Link: 25325900
Variant Present in the following documents:
  • Main text
View BVdb publication page