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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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