Mutations

PSEN1 L424F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.71074C>T
Genomic Mutation Name (NT1): g.87685C>T
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 12
Mutation Type: Point, Missense
Codon Change: CTC to TTC

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Novel PSEN1 gene mutation in a large Bulgarian pedigree with Alzheimer's disease and atypical phenotype. European Journal of Neurology 13 Supp 2: 41, 2006.

Other mutations at this position

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