Mutations

PSEN1 W165G

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73653573 T>G
dbSNP ID: rs63751010
Coding/Non-Coding: Coding
Genomic Region: Exon 6
Mutation Type: Point, Missense
Codon Change: TGG to GGG

Findings

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References

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Further Reading

Learn More

  1. 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 Rep. 2000;3:227-31.

Other mutations at this position

Alzpedia