VPS13A c.5522T>A ;(p.L1841*)

Variant ID: 9-79936191-T-A

NM_033305.2(VPS13A):c.5522T>A;(p.L1841*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research
Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2017-01

Variant appearance in text: VPS13A: L1841*
PubMed Link: 28003435
Variant Present in the following documents:
  • Main text
  • supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 3
  • supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 3
View BVdb publication page