Mutations

PSEN1 I143V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.25630A>G
Genomic Mutation Name (NT1): g.42184A>G
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ATT to GTT

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 novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features. J Alzheimers Dis. 2011;25(3):425-31. PubMed.

Other mutations at this position

View Table