Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73664803 A>C
dbSNP ID: rs63750524
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: AGA to AGC
No Available References
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- Raman A, Lin X, Suri M, Hewitt M, Constantinescu CS, Phillips MF. A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis. J Neurol Sci. 2007 Sep 15;260(1-2):78-82. PubMed.