Mutations

PSEN1 L424F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73685863 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 12
Mutation Type: Point, Missense
Codon Change: CTC to TTC

Findings

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References

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Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . Novel PSEN1 gene mutation in a large Bulgarian pedigree with Alzheimer's disease and atypical phenotype. Eur J Neurol. 2006;13(Suppl 2):41.

Other mutations at this position

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