Mutations

PSEN1 L219F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.44674C>T
Genomic Mutation Name (NT1): g.61280C>T
dbSNP ID: rs63749987
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: CTT to TTT

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel missense mutation (L219F) in exon 8 of the presenilin 1 gene in an Italian family with presenile familial Alzheimer's disease. Neurobiology of Aging 21 Supp1: S176-S177, 2000.

Other mutations at this position

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