SMARCA4 c.1594dup ;(p.A532Gfs*2)

Variant ID: 19-11106887-A-AG

NM_003072.3(SMARCA4):c.1594dup;(p.A532Gfs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).

Rare Diseases (Austin, Tex.)
Ramos, Pilar P; Karnezis, Anthony N AN; Hendricks, William P D WP; Wang, Yemin Y; Tembe, Waibhav W; Zismann, Victoria L VL; Legendre, Christophe C; Liang, Winnie S WS; Russell, Megan L ML; Craig, David W DW; Farley, John H JH; Monk, Bradley J BJ; Anthony, Stephen P SP; Sekulic, Aleksandar A; Cunliffe, Heather E HE; Huntsman, David G DG; Trent, Jeffrey M JM
Publication Date: 2014

Variant appearance in text: SMARCA4: Ala532fs
PubMed Link: 26942101
Variant Present in the following documents:
  • Main text
  • krad-02-01-967148.pdf
View BVdb publication page