Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73685863 C>T
dbSNP ID: NA
Genomic Region: Exon 12
Mutation Type: Point, Missense
Codon Change: CTC to TTC
No Available References
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- Mehrabian s, Traykov LT, Jordanova A, Rademakers R, Cruts M, Raycheva MR, Van den Broeck M, Kremensky I, Van Broeckhoven C. Novel PSEN1 gene mutation in a large Bulgarian pedigree with Alzheimer's disease and atypical phenotype. Eur J Neurol. 2006;13(Suppl 2):41.