Mutations

PSEN1 G217R

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659452 G>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGT to CGT

Findings

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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. . Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques. Neurology. 2009 Aug 11;73(6):480-2. PubMed.

Other mutations at this position

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