Mutations

PSEN1 R269G

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Myoclonus
Genomic Mutation Name (MET1): g.49990C>G
Genomic Mutation Name (NT1): g.66596C>G
dbSNP ID: rs63751019
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CGT to GGT

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. Neurodegeneration. 1996 Sep;5(3):207-12. PubMed.

Other mutations at this position

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