Mutations

PSEN1 M233L (A>C)

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.44716A>C
Genomic Mutation Name (NT1): g.61322A>C
dbSNP ID: rs63751287
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: ATG to CTG

Findings

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Alzheimer Disease & Frontotemporal Dementia Mutation Database