Mutations

PSEN1 F175S

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Genomic Mutation Name (MET1): g.38821T>C
Genomic Mutation Name (NT1): g.55426T>C
dbSNP ID: rs63750771
Coding/Non-Coding: Coding
Genomic Region: Exon 6
Mutation Type: Point, Missense
Codon Change: TTC to TCC

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease. Eur Neurol. 2002;47(4):209-13. PubMed.