Mutations

PSEN1 I168del

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73653582 ATT>---
dbSNP ID: rs63750879
Coding/Non-Coding: Coding
Genomic Region: Exon 6
Mutation Type: Deletion
Codon Change: ATT.ATA to ATA

Findings

This mutation involves a trinucleotide deletion resulting in the in-frame deletion of one amino acid (I).

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References

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Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003 Jan 28;60(2):235-9. PubMed.

Other mutations at this position

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