Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73653601 T>G
dbSNP ID: rs63751025
Genomic Region: Exon 6
Mutation Type: Point, Missense
Codon Change: CTG to CGG
No Available References
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- Klünemann HH, Rogaeva E, Neumann M, Kretzschmar HA, Kandel M, Toulina A, Sato C, Salehi-Rad S, Pfister K, Klein HE, St George-Hyslop PH. Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease. Alzheimer Dis Assoc Disord. 2004 Oct-Dec;18(4):256-8. PubMed.