Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73640302 G>A
dbSNP ID: rs63750378
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: GAG to AAG
No Available References
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- Yasuda M, Maeda K, Hashimoto M, Yamashita H, Ikejiri Y, Bird TD, Tanaka C, Schellenberg GD. A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2. Arch Neurol. 1999 Jan;56(1):65-9. PubMed.