Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity, Frontotemporal Dementia : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41158691 G>A
Position: (GRCh37/hg19):Chr6:41126429 G>A
dbSNP ID: rs2234258
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Genomic Region: Exon 5, 3' UTR

Findings

The rs2234258 variant introduces a point mutation into the 3’ untranslated region of TREM2. This variant was found in none of 1216 Alzheimer’s patients, one of 359 FTD patients and none of 1094 controls in a Belgian study (Cuyvers et al., 2014).

Neuropathology

No data.

Biological Effect

No data.

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Paper Citations

1. Cuyvers E, Bettens K, Philtjens S, Van Langenhove T, Gijselinck I, van der Zee J, Engelborghs S, Vandenbulcke M, Van Dongen J, Geerts N, Maes G, Mattheijssens M, Peeters K, Cras P, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Cruts M, Sleegers K, BELNEU consortium. Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia. Neurobiol Aging. 2014 Mar;35(3):726.e11-9. Epub 2013 Oct 9 PubMed.

Further Reading

No Available Further Reading