Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Dementia with Lewy Bodies
Reference Assembly: GRCh37 (105)
Position: Chr14:73685910 ACC>---
dbSNP ID: rs63750470
Genomic Region: Exon 12
Mutation Type: Deletion
Codon Change: ACC to ---
No Available References
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- Ishikawa A, Piao YS, Miyashita A, Kuwano R, Onodera O, Ohtake H, Suzuki M, Nishizawa M, Takahashi H. A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. Ann Neurol. 2005 Mar;57(3):429-34. PubMed.