Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73664819 C>T
dbSNP ID: rs63750324
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CCA to TCA
No Available References
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- Marrosu MG, Floris G, Costa G, Schirru L, Spinicci G, Cherchi MV, Mura M, Mascia MG, Cocco E. Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation. Neurology. 2006 Jan 10;66(1):108-11. PubMed.