Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Parkinsonism
Reference Assembly: GRCh37 (105)
Position: Chr14:73659453 G>A
dbSNP ID: rs63750444
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGT to GAT
No Available References
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- Miravalle L, Murrell JR, Takao M, Glazier B, Piccardo P, Vidal R, Ghetti B. Genetic mutations associated with presenile dementia. Neurobiol Aging. 2002 Jul-Aug; 23(S1):322.
- Takao M, Ghetti B, Hayakawa I, Ikeda E, Fukuuchi Y, Miravalle L, Piccardo P, Murrell JR, Glazier BS, Koto A. A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta Neuropathol. 2002 Aug;104(2):155-70. PubMed.