Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659452 G>C
dbSNP ID: NA
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGT to CGT
No Available References
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- Norton JB, Cairns NJ, Chakraverty S, Wang J, Levitch D, Galvin JE, Goate A. Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques. Neurology. 2009 Aug 11;73(6):480-2. PubMed.