Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73683879 T>C
dbSNP ID: rs63750218
Genomic Region: Exon 11
Mutation Type: Point, Missense
Codon Change: CTG to CCG
No Available References
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- Sorbi S, Tedde A, Nacmias B, Ciantelli M, Caffarra P, Ghidoni E, Bracco L, Piccini C. Novel presenilin 1 and presenilin 2 mutations in early-onset Alzheimer's disease families. Neurobiol Aging. 2002 Jul-Aug;23(1S):312.