Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73664750 G>T
dbSNP ID: rs63750964
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: GTT to TTT
No Available References
- Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.
- Farlow , Murrell , Hulette , Ghetti . Hereditary lateral sclerosis and Alzheimer disease associated with mutation at codon 261 of the presenilin 1 (PS1) gene. Neurobiology of Aging 21 Supp1: S62, 2000
- Farlow , Murrell , Unverzagt , Phillips , Takao , Ghetti , Hulette . Familial Alzheimer's disease with spastic paraparesis associated with a mutation at codon 261 of the presenilin 1 gene. Alzheimer's disease: advances in etiology, pathogenesis and therapeutics Chapter 6: 53-60, 2001.