SMARCA4 c.118_119delinsGC ;(p.H40A)

Variant ID: 19-11094945-CA-GC

NM_003072.3(SMARCA4):c.118_119delinsGC;(p.H40A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular landscapes of longitudinal NF2/22q and non-NF2/22q meningiomas show different life histories.

Brain Pathology (Zurich, Switzerland)
Ng, Ho-Keung HK; Li, Kay Ka-Wai KK; Chung, Nellie Yuk-Fei NY; Chan, Janice Yuen-Tung JY; Poon, Manix Fung-Man MF; Wong, Queenie Hoi-Wing QH; Kwan, Johnny Sheung-Him JS; Poon, Wai-Sang WS; Chen, Hong H; Chan, Danny Tat-Ming DT; Shi, Zhi-Feng ZF; Mao, Ying Y
Publication Date: 2022-09-27

Variant appearance in text: SMARCA4: H40A
PubMed Link: 36167400
Variant Present in the following documents:
  • BPA-33-e13120.pdf
  • BPA-33-e13120-s001.xlsx, sheet 7
View BVdb publication page



Genomic and metabolic characterization of a chromophobe renal cell carcinoma cell line model (UOK276).

Genes, Chromosomes & Cancer
Yang, Youfeng Y; Vocke, Cathy D CD; Ricketts, Christopher J CJ; Wei, Darmood D; Padilla-Nash, Hesed M HM; Lang, Martin M; Sourbier, Carole C; Killian, J Keith JK; Boyle, Shawna L SL; Worrell, Robert R; Meltzer, Paul S PS; Ried, Thomas T; Merino, Maria J MJ; Metwalli, Adam R AR; Linehan, W Marston WM
Publication Date: 2017-10

Variant appearance in text: SMARCA4: H40a
PubMed Link: 28736828
Variant Present in the following documents:
  • Main text
View BVdb publication page