Mutations

TREM2 G45E

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype:
Reference Assembly: GRCh37 (105)
Position: Chr6:41129258 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GGG to GAG
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The G45E variant was found in a cohort of Icelanders, where it did not associate with Alzheimer’s disease (odds ratio: 0.81, p = 0.78) (Jonsson et al., 2013).

Neuropathology

No data.

Biological Effect

No data.

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. . Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med. 2013 Jan 10;368(2):107-16. Epub 2012 Nov 14 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med. 2013 Jan 10;368(2):107-16. Epub 2012 Nov 14 PubMed.

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