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NF1 c.5198T>G ;(p.L1733*)
Variant ID: 17-29653200-T-G
NM_001042492.2(
NF1
):c.5198T>G;(p.L1733*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 5198T>G
PubMed Link:
25325900
Variant Present in the following documents:
Main text
View BVdb publication page