PIK3CA c.1748_1750del ;(p.M583_Y584delinsN)

Variant ID: 3-178937360-ATGT-A

NM_006218.2(PIK3CA):c.1748_1750del;(p.M583_Y584delinsN)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Cottrell, Catherine E CE; Bender, Nicole R NR; Zimmermann, Michael T MT; Heusel, Jonathan W JW; Corliss, Meagan M; Evenson, Michael J MJ; Magrini, Vincent V; Corsmeier, Donald J DJ; Avenarius, Matthew M; Dudley, Jeffrey N JN; Johnston, Jennifer J JJ; Lindhurst, Marjorie J MJ; Vigh-Conrad, Katinka K; Davies, Olivia M T OMT; Coughlin, Carrie C CC; Frieden, Ilona J IJ; Tollefson, Megha M; Zaenglein, Andrea L AL; Ciliberto, Heather H; Tosi, Laura L LL; Semple, Robert K RK; Biesecker, Leslie G LG; Drolet, Beth A BA
Publication Date: 2021-10

Variant appearance in text: PI3K: 1748_1750del
PubMed Link: 34040190
Variant Present in the following documents:
  • Main text
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