APP c.*372A>G

Variant ID: 21-27253609-T-C

NM_000484.3(APP):c.*372A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.

International Journal Of Molecular Sciences
Abondio, Paolo P; Bruno, Francesco F; Bruni, Amalia Cecilia AC; Luiselli, Donata D
Publication Date: 2022-12-14

Variant appearance in text: rs187940037
PubMed Link: 36555510
Variant Present in the following documents:
  • ijms-23-15871.pdf
View BVdb publication page



Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy.

European Journal Of Human Genetics : Ejhg
Nicolas, Gaël G; Wallon, David D; Goupil, Claudia C; Richard, Anne-Claire AC; Pottier, Cyril C; Dorval, Véronique V; Sarov-Rivière, Mariana M; Riant, Florence F; Hervé, Dominique D; Amouyel, Philippe P; Guerchet, Maelenn M; Ndamba-Bandzouzi, Bebene B; Mbelesso, Pascal P; Dartigues, Jean-François JF; Lambert, Jean-Charles JC; Preux, Pierre-Marie PM; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D; Tournier-Lasserve, Elisabeth E; Hébert, Sébastien S SS; Rovelet-Lecrux, Anne A
Publication Date: 2016-01

Variant appearance in text: rs187940037
PubMed Link: 25828868
Variant Present in the following documents:
  • Main text
View BVdb publication page