APOE c.681C>A ;(p.A227=)

Variant ID: 19-45412234-C-A

NM_000041.2(APOE):c.681C>A;(p.A227=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.

Bmc Neurology
Kaivorinne, Anna-Lotta AL; Krüger, Johanna J; Kuivaniemi, Katja K; Tuominen, Hannu H; Moilanen, Virpi V; Majamaa, Kari K; Remes, Anne M AM
Publication Date: 2008-12-17

Variant appearance in text: APOE: A227A
PubMed Link: 19091059
Variant Present in the following documents:
  • 1471-2377-8-48.pdf
View BVdb publication page



H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers.

European Journal Of Human Genetics : Ejhg
Canu, Elisa E; Boccardi, Marina M; Ghidoni, Roberta R; Benussi, Luisa L; Testa, Cristina C; Pievani, Michela M; Bonetti, Matteo M; Binetti, Giuliano G; Frisoni, Giovanni B GB
Publication Date: 2009-03

Variant appearance in text: APOE: A227A
PubMed Link: 18854867
Variant Present in the following documents:
  • Main text
View BVdb publication page