VPS13A c.2824+100T>G

Variant ID: 9-79891237-T-G

NM_033305.2(VPS13A):c.2824+100T>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs7030802
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



HDAC9 is implicated in atherosclerotic aortic calcification and affects vascular smooth muscle cell phenotype.

Nature Genetics
Malhotra, Rajeev R; Mauer, Andreas C AC; Lino Cardenas, Christian L CL; Guo, Xiuqing X; Yao, Jie J; Zhang, Xiaoling X; Wunderer, Florian F; Smith, Albert V AV; Wong, Quenna Q; Pechlivanis, Sonali S; Hwang, Shih-Jen SJ; Wang, Judy J; Lu, Lingyi L; Nicholson, Christopher J CJ; Shelton, Georgia G; Buswell, Mary D MD; Barnes, Hanna J HJ; Sigurslid, Haakon H HH; Slocum, Charles C; Rourke, Caitlin O' CO; Rhee, David K DK; Bagchi, Aranya A; Nigwekar, Sagar U SU; Buys, Emmanuel S ES; Campbell, Catherine Y CY; Harris, Tamara T; Budoff, Matthew M; Criqui, Michael H MH; Rotter, Jerome I JI; Johnson, Andrew D AD; Song, Ci C; Franceschini, Nora N; Debette, Stephanie S; Hoffmann, Udo U; Kälsch, Hagen H; Nöthen, Markus M MM; Sigurdsson, Sigurdur S; Freedman, Barry I BI; Bowden, Donald W DW; Jöckel, Karl-Heinz KH; Moebus, Susanne S; Erbel, Raimund R; Feitosa, Mary F MF; Gudnason, Vilmundur V; Thanassoulis, George G; Zapol, Warren M WM; Lindsay, Mark E ME; Bloch, Donald B DB; Post, Wendy S WS; O'Donnell, Christopher J CJ
Publication Date: 2019-11

Variant appearance in text: rs7030802
PubMed Link: 31659325
Variant Present in the following documents:
  • NIHMS1540170-supplement-2.pdf
View BVdb publication page