Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73640371 A>T
dbSNP ID: rs63750306
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ATG to TTG
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.
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- Morelli L, Prat MI, Levy E, Mangone CA, Castaño EM. Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina. Clin Genet. 1998 Jun;53(6):469-73. PubMed.