Mutations

PSEN1 T440del

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Dementia with Lewy Bodies
Reference Assembly: GRCh37 (105)
Position: Chr14:73685910 ACC>---
dbSNP ID: rs63750470
Coding/Non-Coding: Coding
Genomic Region: Exon 12
Mutation Type: Deletion
Codon Change: ACC to ---

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. . A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. Ann Neurol. 2005 Mar;57(3):429-34. PubMed.

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