Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73640364 T>G
dbSNP ID: rs63751071
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ATT to ATG
No Available References
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- Heckmann J, de Viliers C, Rutherfoord S, Ramesar R, Morris C, Low R, Kalaria RN. Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous South African family with early-onset Alzheimer's disease. Neurobiol Aging. 2002 Jul-Aug; 23(S1):321.