Mutations

PSEN1 M146I (G>C)

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.25641G>C
Genomic Mutation Name (NT1): g.42195G>C
dbSNP ID: rs63750391
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ATG to ATC

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease. Hum Genet. 1998 Mar;102(3):253-7. PubMed.

Other mutations at this position

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