Mutations

PSEN1 P267L

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.49985C>T
Genomic Mutation Name (NT1): g.66591C>T
dbSNP ID: rs63750779
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CCA to CTA

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the PoznaƄ region. J Appl Genet. 2003;44(2):231-4. PubMed.

Other mutations at this position

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