Mutations

TREM2 c.392-352T>C (rs7748513)

Other Names: rs7748513

Overview

Pathogenicity: Alzheimer's Disease : Possible Risk Modifier
Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr6:41160234 T>C
Position: (GRCh37/hg19):Chr6:41127972 T>C
dbSNP ID: rs7748513
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Genomic Region: Intron 2

Findings

The rs7748513 variant was reported to be associated with an increased risk for Alzheimer’s disease in African Americans (OR 1.16, p = 0.001) (Reitz and Mayeux, 2013). This variant is located approximately 1 kb downstream of, and is in linkage disequilibrium with, rs75932628 (R47H).

Last Updated: 24 Jan 2023

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References

Paper Citations

  1. Reitz C, Mayeux R, Alzheimer’s Disease Genetics Consortium. TREM2 and neurodegenerative disease. N Engl J Med. 2013 Oct 17;369(16):1564-5. PubMed.

Other Citations

  1. R47H

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Reitz C, Mayeux R, Alzheimer’s Disease Genetics Consortium. TREM2 and neurodegenerative disease. N Engl J Med. 2013 Oct 17;369(16):1564-5. PubMed.

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