SMARCA4 c.1870_1872delinsTGA ;(p.S624*)

Variant ID: 19-11113762-AGT-TGA

NM_003072.3(SMARCA4):c.1870_1872delinsTGA;(p.S624*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.

Nature Communications
Kiel, Mark J MJ; Sahasrabuddhe, Anagh A AA; Rolland, Delphine C M DCM; Velusamy, Thirunavukkarasu T; Chung, Fuzon F; Schaller, Matthew M; Bailey, Nathanael G NG; Betz, Bryan L BL; Miranda, Roberto N RN; Porcu, Pierluigi P; Byrd, John C JC; Medeiros, L Jeffrey LJ; Kunkel, Steven L SL; Bahler, David W DW; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ
Publication Date: 2015-09-29

Variant appearance in text: SMARCA4: S624X
PubMed Link: 26415585
Variant Present in the following documents:
  • Main text
  • ncomms9470.pdf
View BVdb publication page