PMID: 32808727

APOE and dementia - resequencing and genotyping in 105,597 individuals.

Alzheimer's & dementia : the journal of the Alzheimer's Association
Rasmussen, Katrine L KL, Tybjaerg-Hansen, Anne A, Nordestgaard, Børge G BG, Frikke-Schmidt, Ruth R
2020-12

12 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-45412314-T-A APOE c.761T>A p.V254E Missense 4/4 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
19-45412358-C-G APOE c.805C>G p.R269G Missense 4/4 -
6-41127604-CCG-GCT TREM2 c.406_408delCGGinsAGC p.R136S Missense 3/5 -
19-45411893-G-A APOE c.340G>A p.E114K Missense 4/4 -
19-45411987-G-A APOE c.434G>A p.G145D Missense 4/4 -
19-45412013-C-A APOE c.460C>A p.R154S Missense 4/4 -
19-45412337-G-A APOE c.784G>A p.E262K Missense 4/4 -
19-45412340-G-A APOE c.787G>A p.E263K Missense 4/4 -
19-45409912-A-T APOE c.31A>T p.T11S Missense 2/4 -
19-45411041-C-T APOE c.68C>T p.A23V Missense 3/4 -
19-45411064-G-A APOE c.91G>A p.E31K Missense 3/4 -