Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Reference Assembly: GRCh37/hg19
Position: Chr6:41126642 T>G
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CAT to CAG
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 4

Findings

In a Caucasian cohort, the H215Q variant was found in one of 2001 Alzheimer’s patients and none of 1560 controls (p = 1) (Jin et al., 2014, 24899047). This variant was also found in one Alzheimer’s patient in a second Caucasian cohort, from the Alzheimer’s Disease Sequencing Project (2927 AD, 2633 cognitively healthy controls) (Sirkis et al., 2016).

Neuropathology

No data.

Biological Effect

No data.

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References

Paper Citations

1. Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C. Coding variants in TREM2 increase risk for Alzheimer's disease. Hum Mol Genet. 2014 Nov 1;23(21):5838-46. Epub 2014 Jun 4 PubMed.
2. Sirkis DW, Bonham LW, Aparicio RE, Geier EG, Ramos EM, Wang Q, Karydas A, Miller ZA, Miller BL, Coppola G, Yokoyama JS. Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression. Acta Neuropathol Commun. 2016 Sep 2;4(1):98. PubMed.

Further Reading

No Available Further Reading