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NF1 c.899T>C ;(p.L300P)
Variant ID: 17-29527450-T-C
NM_001042492.2(
NF1
):c.899T>C;(p.L300P)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: Leu300Pro
PubMed Link:
28955729
Variant Present in the following documents:
supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
View BVdb publication page
Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.
Oncotarget
Patil, Vikas V; Pal, Jagriti J; Somasundaram, Kumaravel K
Publication Date: 2015-12-22
Variant appearance in text: NF1: 899T>C
PubMed Link:
26496030
Variant Present in the following documents:
oncotarget-06-43452-s003.xlsx, sheet 1
View BVdb publication page
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10
Variant appearance in text: NF1: Leu300Pro
PubMed Link:
22155606
Variant Present in the following documents:
Main text
1479-7364-5-6-623.pdf
View BVdb publication page