Pathogenicity: Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Cerebral Amyloid Angiopathy
Reference Assembly: GRCh37 (105)
Position: Chr14:73664826 T>C
dbSNP ID: NA
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CTC to CCC
No Available References
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- Sánchez-Valle R, Lladó A, Ezquerra M, Rey MJ, Rami L, Molinuevo JL. A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas. Eur J Neurol. 2007 Dec;14(12):1409-12. PubMed.