Mutations

PSEN1 T440del

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Dementia with Lewy Bodies
Genomic Mutation Name (MET1): g.71122_71124delACC
Genomic Mutation Name (NT1): g.87733_87735delACC
dbSNP ID: rs63750470
Coding/Non-Coding: Coding
Genomic Region: Exon 12
Mutation Type: Deletion
Codon Change: ACC to ---

Findings

Comments

Make a Comment

To make a comment you must login or register.

Comments on this content

No Available Comments

References

No Available References

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

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.