Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659480 T>G
dbSNP ID: rs63749961
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: CTC to CGC
No Available References
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- Coleman P, Kurlan R, Crook R, Werner J, Hardy J. A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5. Neurosci Lett. 2004 Jul 8;364(3):139-40. PubMed.