KIT c.1591A>G ;(p.I531V)

Variant ID: 4-55593434-A-G

NM_000222.2(KIT):c.1591A>G;(p.I531V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Therapeutic management of neuro-oncologic patients - potential relevance of CSF liquid biopsy.

Theranostics
von Baumgarten, Louisa L; Kumbrink, Jörg J; Jung, Andreas A; Reischer, Anna A; Flach, Madeleine M; Liebmann, Sibylle S; Metzeler, Klaus H KH; Holch, Julian W JW; Niyazi, Maximilian M; Thon, Niklas N; Straube, Andreas A; von Bergwelt-Baildon, Michael M; Heinemann, Volker V; Kirchner, Thomas T; Westphalen, Christoph Benedikt CB
Publication Date: 2020

Variant appearance in text: KIT: 1591A>G; Ile531Val
PubMed Link: 31903155
Variant Present in the following documents:
  • thnov10p0856s1.pdf
View BVdb publication page



A novel molecular diagnostics platform for somatic and germline precision oncology.

Molecular Genetics & Genomic Medicine
Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
Publication Date: 2017-07

Variant appearance in text: KIT: 1591A>G; I531V
PubMed Link: 28717660
Variant Present in the following documents:
  • Main text
View BVdb publication page