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
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- 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 MR, Murrell JR, Hulette CM, Ghetti B. Hereditary lateral sclerosis and Alzheimer disease associated with mutation at codon 261 of the presenilin 1 (PS1) gene. Neurobiol Aging. 2000 May-Jun; 21(Suppl 1):62.
- Farlow MR, Murrell J, Unverzagt FW, Phillips M, Takao M, Ghetti B, Hulette C. Familial Alzheimer's disease with spastic paraparesis associated with a mutation at codon 261 of the presenilin 1 gene. In: Alzheimer's Disease: Advances in Etiology, Pathogenesis and Therapeutics. 2001. Chapter 6. pp53-60.