SMARCA4 c.722_735del ;(p.G241Afs*41)

Variant ID: 19-11097231-GGTCCCGGCCCGGCA-G

NM_003072.3(SMARCA4):c.722_735del;(p.G241Afs*41)

This variant was identified in 2 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: SMARCA4: 722_735del
PubMed Link: 30662543
Variant Present in the following documents:
  • Main text
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: 722_735delGTCCCGGCCCGGCA; Gly241fs
PubMed Link: 24658001
Variant Present in the following documents:
  • Main text
View BVdb publication page