Pathogenicity: Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Cerebral Amyloid Angiopathy, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73664765 G>A
dbSNP ID: rs121917807
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: GGT to AGT
No Available References
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- Akatsu H, Yamagata H, Wake A, Watanabe I, Kimura N, Kamada K, Miyazaki T, Tanabe H, Miki T, Yamamoto T, Hori A, Mimuro M, Yoshida M, Hashizume Y. The first autopsy case report of familial Alzheimer's disease (AD) associated with a mutation at G266S in the presenilin 1 (PSEN1) gene. Alzheimers Dement. 2008 Jul;4(4 Suppl);T578.