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NF1 c.5290G>T ;(p.V1764L)
Variant ID: 17-29654538-G-T
NM_001042492.2(
NF1
):c.5290G>T;(p.V1764L)
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:
Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.
Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10
Variant appearance in text: NF1: 5290G>T; Val1764Leu
PubMed Link:
30981987
Variant Present in the following documents:
jmedgenet-2018-105825supp002.xlsx, sheet 4
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: rs778427434
PubMed Link:
30274822
Variant Present in the following documents:
mmc1.xls, sheet 1
View BVdb publication page