SMARCA4 c.1999dup ;(p.E667Gfs*31)

Variant ID: 19-11114070-A-AG

NM_003072.3(SMARCA4):c.1999dup;(p.E667Gfs*31)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.

Journal Of Cancer
Lu, Bingjian B; Shi, Haiyan H
Publication Date: 2019

Variant appearance in text: N/A
PubMed Link: 30662543
Variant Present in the following documents:
View BVdb publication page



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: Glu667fs
PubMed Link: 26942101
Variant Present in the following documents:
  • Main text
  • krad-02-01-967148.pdf
View BVdb publication page



Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

Nature Genetics
Ramos, Pilar P; Karnezis, Anthony N AN; Craig, David W DW; Sekulic, Aleksandar A; Russell, Megan L ML; Hendricks, William P D WP; Corneveaux, Jason J JJ; Barrett, Michael T MT; Shumansky, Karey K; Yang, Yidong Y; Shah, Sohrab P SP; Prentice, Leah M LM; Marra, Marco A MA; Kiefer, Jeffrey J; Zismann, Victoria L VL; McEachron, Troy A TA; Salhia, Bodour B; Prat, Jaime J; D'Angelo, Emanuela E; Clarke, Blaise A BA; Pressey, Joseph G JG; Farley, John H JH; Anthony, Stephen P SP; Roden, Richard B S RB; Cunliffe, Heather E HE; Huntsman, David G DG; Trent, Jeffrey M JM
Publication Date: 2014-05

Variant appearance in text: SMARCA4: Glu667fs
PubMed Link: 24658001
Variant Present in the following documents:
  • Main text
View BVdb publication page