Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659520 G>C
dbSNP ID: NA
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: AAG to AAC
No Available References
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- Lladó A, Fortea J, Ojea T, Bosch B, Sanz P, Valls-Solé J, Clarimon J, Molinuevo JL, Sánchez-Valle R. A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression. Eur J Neurol. 2010 Jul;17(7):994-6. Epub 2010 Feb 10 PubMed.