Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659458 C>T
dbSNP ID: rs63749987
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: CTT to TTT
No Available References
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- Terreni L, Valeria C, Calella AM, Gavazzi A, Alberoni M, Grimaldi, Mariani C, Forloni G. A novel missense mutation (L219F) in exon 8 of the presenilin 1 gene in an Italian family with presenile familial Alzheimer's disease. Neurobiol Aging. 2000 May-Jun;21(Suppl 1):176-7.