Mutations

PSEN1 V412I

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Genomic Mutation Name (MET1): g.69148G>A
Genomic Mutation Name (NT1): g.85760G>A
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 11
Mutation Type: Point, Missense
Codon Change: GTA to ATA

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia. Neurobiol Aging. 2009 Nov;30(11):1825-33. PubMed.