Mutations

PSEN1 A136G

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.25610C>G
Genomic Mutation Name (NT1): g.42164C>G
dbSNP ID: rs41345849
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: GCT to GGT

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database