NF1 c.4269A>G ;(p.E1423=)

Variant ID: 17-29585457-A-G

NM_001042492.2(NF1):c.4269A>G;(p.E1423=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: NF1: 4269A>G; E1423E
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management.

Acta Neuropathologica Communications
Daoud, Elena V EV; Zhu, Kelsey K; Mickey, Bruce B; Mohamed, Hussein H; Wen, Mandisa M; Delorenzo, Michael M; Tran, Ivy I; Serrano, Jonathan J; Hatanpaa, Kimmo J KJ; Raisanen, Jack M JM; Snuderl, Matija M; Cai, Chunyu C
Publication Date: 2022-04-19

Variant appearance in text: NF1: 4269A>G; Glu1423=; rs17886566
PubMed Link: 35440040
Variant Present in the following documents:
  • 40478_2022_1362_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: NF1: 4269A>G; rs17886566
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, 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: 4269A>G; Glu1423=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page