Pathogenicity: Alzheimer's Disease : Pathogenic, Spastic Paraparesis : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73664802 G>A
dbSNP ID: rs63749891
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: AGA to AAA
No Available References
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- Assini A, Terreni L, Borghi R, Giliberto L, Piccini A, Loqui D, Fogliarino S, Forloni G, Tabaton M. Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation. Neurology. 2003 Jan 14;60(1):150. PubMed.