SMARCA4 c.2130del ;(p.K711Sfs*63)

Variant ID: 19-11121061-GC-G

NM_003072.3(SMARCA4):c.2130del;(p.K711Sfs*63)

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: SMARCA4: 2129_2129delC
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: 2129_2129delC; Lys711Serfs*63
PubMed Link: 28608987
Variant Present in the following documents:
View BVdb publication page



Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor.

Oncotarget
Fahiminiya, Somayyeh S; Witkowski, Leora L; Nadaf, Javad J; Carrot-Zhang, Jian J; Goudie, Catherine C; Hasselblatt, Martin M; Johann, Pascal P; Kool, Marcel M; Lee, Ryan S RS; Gayden, Tenzin T; Roberts, Charles W M CW; Biegel, Jaclyn A JA; Jabado, Nada N; Majewski, Jacek J; Foulkes, William D WD
Publication Date: 2016-01-12

Variant appearance in text: SMARCA4: 2129_2129delC; Lys711Serfs*63
PubMed Link: 26646792
Variant Present in the following documents:
  • oncotarget-07-1732-s001.pdf
View BVdb publication page