NF1 c.4221T>A ;(p.S1407R)

Variant ID: 17-29585409-T-A

NM_001042492.2(NF1):c.4221T>A;(p.S1407R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease.

The Oncologist
Saunders, Ila M IM; Goodman, Aaron M AM; Kurzrock, Razelle R
Publication Date: 2020-02

Variant appearance in text: NF1: S1407R
PubMed Link: 32043767
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: NF1: S1407R
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page