SMARCA4 c.2294_2316del ;(p.L765Pfs*51)

Variant ID: 19-11123642-GCTGGTGTCCCTGTACAACAACAA-G

NM_003072.3(SMARCA4):c.2294_2316del;(p.L765Pfs*51)

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: 2293_2315del
PubMed Link: 30662543
Variant Present in the following documents:
  • Main text
View BVdb publication page



SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

The Journal Of Pathology
Errichiello, Edoardo E; Mustafa, Noor N; Vetro, Annalisa A; Notarangelo, Lucia Dora LD; de Jonge, Hugo H; Rinaldi, Berardo B; Vergani, Debora D; Giglio, Sabrina Rita SR; Morbini, Patrizia P; Zuffardi, Orsetta O
Publication Date: 2017-09

Variant appearance in text: SMARCA4: 2293_2315del; Leu765Profs*51
PubMed Link: 28608987
Variant Present in the following documents:
View BVdb publication page