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NF1 c.7456A>G ;(p.R2486G)
Variant ID: 17-29677335-A-G
NM_001042492.2(
NF1
):c.7456A>G;(p.R2486G)
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:
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.
Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10
Variant appearance in text: rs752162999
PubMed Link:
30274822
Variant Present in the following documents:
mmc1.xls, sheet 1
View BVdb publication page
Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.
Molecular Cancer
Pstrąg, Natalia N; Ziemnicka, Katarzyna K; Bluyssen, Hans H; Wesoły, Joanna J
Publication Date: 2018-08-08
Variant appearance in text: rs752162999
PubMed Link:
30089490
Variant Present in the following documents:
Main text
12943_2018_Article_866.pdf
View BVdb publication page