Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73640395 T>A
dbSNP ID: rs63750588
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: TAT to AAT
No Available References
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- Hattori S, Sakuma K, Wakutani Y, Wada K, Shimoda M, Urakami K, Kowa H, Nakashima K. A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis. Neurosci Lett. 2004 Sep 30;368(3):319-22. PubMed.