SMARCA4 c.2123+1G>A

Variant ID: 19-11118700-G-A

NM_003072.3(SMARCA4):c.2123+1G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic landscapes and curative effect of CAR T-cell immunotherapy in relapse and refractory DLBCL patients.

Blood Advances
Shi, Hui H; Zheng, Peihao P; Liu, Rui R; Xu, Teng T; Yang, Fan F; Feng, Shaomei S; Guo, Yuelu Y; Ma, Lixia L; Liu, Haidi H; Lei, Yang Y; Li, Ruiting R; Deng, Biping B; Hou, Shuling S; Li, Yang Y; Zheng, Qinlong Q; Hu, Kai K; Ke, Xiaoyan X
Publication Date: 2022-07-28

Variant appearance in text: SMARCA4: 2123+1G>A
PubMed Link: 35901280
Variant Present in the following documents:
  • BLOODA_ADV-2021-006845-mmc1.xlsx, sheet 2
View BVdb publication page



Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Frontiers In Genetics
Gao, Fan F; Tian, Lei L; Shi, Hui H; Zheng, Peihao P; Wang, Jing J; Dong, Fei F; Hu, Kai K; Ke, Xiaoyan X
Publication Date: 2021

Variant appearance in text: SMARCA4: 2123+1G>A
PubMed Link: 34925435
Variant Present in the following documents:
  • DataSheet2.xlsx, sheet 1
View BVdb publication page



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: 2123+1G>A
PubMed Link: 30662543
Variant Present in the following documents:
  • Main text
  • jcav10p0223.pdf
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: 2123+1G>A
PubMed Link: 28608987
Variant Present in the following documents:
View BVdb publication page