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NF1 c.4219A>G ;(p.S1407G)
Variant ID: 17-29585407-A-G
NM_001042492.2(
NF1
):c.4219A>G;(p.S1407G)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tolusso, Leandra K LK; Hazelton, Paige P; Wong, Beatrix B; Swarr, Daniel T DT
Publication Date: 2021-05
Variant appearance in text: NF1: 4219A>G; Ser1407Gly
PubMed Link:
33442022
Variant Present in the following documents:
Main text
41436_2020_Article_1067.pdf
View BVdb publication page
Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.
Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16
Variant appearance in text: NF1: S1407G
PubMed Link:
30992440
Variant Present in the following documents:
41467_2019_9762_MOESM12_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: rs587781755
PubMed Link:
30274822
Variant Present in the following documents:
mmc1.xls, sheet 1
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: NF1: 4219A>G; Ser1407Gly
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.
Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11
Variant appearance in text: NF1: 4219A>G; Ser1407Gly
PubMed Link:
27697855
Variant Present in the following documents:
10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page