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NF1 c.2158C>T ;(p.R720W)
Variant ID: 17-29553609-C-T
NM_001042492.2(
NF1
):c.2158C>T;(p.R720W)
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:
Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.
Biomarker Research
Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K
Publication Date: 2019
Variant appearance in text: NF1: 2158C>T; Arg720Trp
PubMed Link:
31827798
Variant Present in the following documents:
40364_2019_176_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
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: rs759679443
PubMed Link:
30274822
Variant Present in the following documents:
mmc1.xls, sheet 1
View BVdb publication page