Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659552 T>C
dbSNP ID: rs63751163
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: TTG to TCG
No Available References
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- Harvey RJ, Ellison D, Hardy J, Hutton M, Roques PK, Collinge J, Fox NC, Rossor MN. Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene. J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):44-9. PubMed.