Mutations

PSEN1 W165G

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.38790T>G
Genomic Mutation Name (NT1): g.55395T>G
dbSNP ID: rs63751010
Coding/Non-Coding: Coding
Genomic Region: Exon 6
Mutation Type: Point, Missense
Codon Change: TGG to GGG

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 PS1 Mutation (W165G) in a Japanese family with early-onset Alzheimer's disease. Alzheimer's Reports 3: 227-231, 2000

Other mutations at this position

View Table