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NF1 c.7619C>G ;(p.T2540R)
Variant ID: 17-29683481-C-G
NM_001042492.2(
NF1
):c.7619C>G;(p.T2540R)
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:
Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.
Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04
Variant appearance in text: NF1: 7619C>G; S2540*
PubMed Link:
33397889
Variant Present in the following documents:
41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.
Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020
Variant appearance in text: NF1: 7619C>G; S2540*
PubMed Link:
32373528
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Cancers
Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V
Publication Date: 2019-11-21
Variant appearance in text: NF1: 7619C>G; Ser2540*
PubMed Link:
31766501
Variant Present in the following documents:
Main text
cancers-11-01838.pdf
View BVdb publication page