|| common in clinvar
|| Significantly increased risk for early-onset Alzheimer's disease
rs63750671, also known as c.2075C>G, p.Ala692Gly and A692G, represents a rare mutation in the APP gene.
Known as the Flemish mutation, and inherited dominantly, the rare minor allele is considered pathogenic for either early-onset Alzheimer's disease or cerebral amyloid angiopathy. More information can be found in ClinVar, OMIM and AlzForum.
Reported in [PMID 28350801] as a "definitely" pathogenic mutation for early-onset Alzheimer's disease.
[PMID 1303239] Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
[PMID 9754958] Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
[PMID 9848098] Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion.
[PMID 11004129] Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).
[PMID 11311152] In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.