NF1 c.3200A>T ;(p.D1067V)

Variant ID: 17-29559093-A-T

NM_001042492.2(NF1):c.3200A>T;(p.D1067V)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: NF1: D1067V; rs746785904
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022

Variant appearance in text: NF1: 3200A>T; D1067V
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Genomic and neuroimaging approaches to bipolar disorder.

Bjpsych Open
Oraki Kohshour, Mojtaba M; Papiol, Sergi S; Ching, Christopher R K CRK; Schulze, Thomas G TG
Publication Date: 2022-02-01

Variant appearance in text: NF1: 3200A>T
PubMed Link: 35101157
Variant Present in the following documents:
  • S2056472421010826a.pdf
View BVdb publication page



Transcriptomic and Mutational Analysis Discovering Distinct Molecular Characteristics Among Chinese Thymic Epithelial Tumor Patients.

Frontiers In Oncology
Liang, Naixin N; Liu, Lei L; Huang, Cheng C; Liu, Hongsheng H; Guo, Chao C; Li, Ji J; Wang, Weiwei W; Li, Nan N; Lin, Rui R; Wang, Tao T; Ding, Lieming L; Mao, Li L; Li, Shanqing S
Publication Date: 2021

Variant appearance in text: NF1: D1067V
PubMed Link: 34568003
Variant Present in the following documents:
  • Main text
  • fonc-11-647512.pdf
View BVdb publication page



Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology
Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G
Publication Date: 2021-07

Variant appearance in text: NF1: 3200A>T; Asp1067Val
PubMed Link: 33170376
Variant Present in the following documents:
  • 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology
Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM
Publication Date: 2020-10

Variant appearance in text: NF1: 3200A>T
PubMed Link: 32666581
Variant Present in the following documents:
  • Main text
  • PATH-252-151.pdf
View BVdb publication page



Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers
Hamid, Abdulaziz B AB; Petreaca, Ruben C RC
Publication Date: 2020-04-09

Variant appearance in text: NF1: D1067V
PubMed Link: 32283832
Variant Present in the following documents:
  • cancers-12-00927.pdf
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: NF1: 3200A>T; Asp1067Val
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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: 3200A>T; Asp1067Val
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 3
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: rs746785904
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: NF1: D1067V
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Npj Genomic Medicine
Friedman, Daniel D; Kannan, Kasthuri K; Faustin, Arline A; Shroff, Seema S; Thomas, Cheddhi C; Heguy, Adriana A; Serrano, Jonathan J; Snuderl, Matija M; Devinsky, Orrin O
Publication Date: 2018

Variant appearance in text: NF1: D1067V
PubMed Link: 29619247
Variant Present in the following documents:
  • 41525_2018_48_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page