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224234 RESULTS

TREM2 A28V

MUTATIONS TREM2 41129309 GRCh37 (105) rs2234252 C T Exon 2 Point, Missense Coding Normal protein maturation and increased cell-surface expression in HEK293 cells. Unknown. A28V Alzheimer's Disease: Not Pathogenic, Frontotemporal Dementia: Unclear ...

TREM2 A105V

MUTATIONS TREM2 41129078 GRCh37 (105) rs145080901 C T Exon 2 Point, Missense Coding Unknown. Unknown. A105V Alzheimer's Disease: Not Pathogenic In a case-control study of almost 34,000 Caucasian individuals, the A105V variant did not associate with Alzheimer’s ...

TREM2 D131D

MUTATIONS TREM2 41127619 GRCh37 (105) rs139607688 C T Exon 3 Point, Silent Coding Unknown. Not applicable. D131D Alzheimer's Disease: Not Pathogenic The D131D variant was not associated with AD in a case-control study of more than 33,000 Caucasian subjects ...

TREM2 R136Q

MUTATIONS TREM2 41127605 GRCh37 (105) rs149622783 G A Exon 3 Point, Missense Coding Normal protein maturation, slightly reduced cell-surface expression in HEK293 cells. Unknown. R136Q Alzheimer's Disease: Not Pathogenic, Frontotemporal Dementia: Unclear ...

TREM2 E151K

MUTATIONS TREM2 41127561 GRCh37 (105) rs79011726 G A Exon 3 Point, Missense Coding Normal protein maturation but reduction in overall expression in HEK 293 cells; when stimulated by phospholipids, reporter cells expressing the E151K variant responded similarly to ...

TREM2 A192T

MUTATIONS TREM2 41126713 GRCh37 (105) rs150277350 G A Exon 4 Point, Missense Coding Predicted to be possibly damaging by Polyphen2. Unknown. A192T Alzheimer's Disease: Not Pathogenic In a case-control study of almost 34,000 Caucasian individuals, the A192T ...

TREM2 S16F

MUTATIONS TREM2 41129345 GRCh37 (105) rs777808487 C T Exon 2 Point, Missense Coding Unknown. Unknown. S16F Alzheimer's Disease: Unclear Pathogenicity The S16F variant was found in one Alzheimer’s patient in a Caucasian cohort from the Alzheimer’s Disease ...

TREM2 G17E

MUTATIONS TREM2 41129342 GRCh37 (105) G A Exon 2 Point, Missense Coding Predicted benign by Polyphen-2, tolerated by SIFT, neutral by SNPs&Go. Unknown. G17E Alzheimer's Disease: Unclear Pathogenicity, Frontotemporal Dementia: Unclear Pathogenicity In a ...

TREM2 V27M

MUTATIONS TREM2 41129313 GRCh37 (105) rs768745050 G A Exon 2 Point, Missense Coding Normal protein maturation in HEK293 cells. Unknown. V27M Alzheimer's Disease: Unclear Pathogenicity The V27M variant was found in one Alzheimer’s patient in a Caucasian cohort ...

TREM2 D39E

MUTATIONS TREM2 41129275 GRCh37 (105) rs200392967 C G Exon 2 Point, Missense Coding Predicted to be possibly damaging by Polyphen-2, but to be tolerated by SIFT and neutral by SNPs&Go. Not applicable. D39E Alzheimer's Disease: Not Pathogenic, ...

TREM2 D39G

MUTATIONS TREM2 41129276 GRCh37 (105) A G Exon 2 Point, Missense Coding Predicted to be benign by Polyphen-2, tolerated by SIFT, and neutral by SNPs&Go. Unknown. D39G Alzheimer's Disease: Unclear Pathogenicity, Frontotemporal Dementia: Unclear ...

TREM2 H43Y

MUTATIONS TREM2 41129265 GRCh37 (105) C T Exon 2 Point, Missense Coding Predicted benign by PolyPhen2. Unknown. H43Y Alzheimer's Disease: Unclear Pathogenicity The H43Y variant was found in one of 783 cognitively healthy controls and in none of 726 early-onset ...

TREM2 R52H

MUTATIONS TREM2 41129237 GRCh37 (105) rs374851046 G A Exon 2 Point, Missense Coding Lower cell-surface expression than wild-type TREM2 when co-expressed with its adaptor protein DAP12 in a reporter cell line, but activation by phospholipids similar in cells ...

TREM2 G58A

MUTATIONS TREM2 41129219 GRCh37 (105) G C Exon 2 Point, Missense Coding Predicted by Polyphen2 to be probably damaging, by SIFT to be tolerated, and by SNPs&Go to be neutral. Unknown. G58A Alzheimer's Disease: Unclear Pathogenicity, Frontotemporal Dementia ...

TREM2 N68K

MUTATIONS TREM2 41129188 GRCh37 (105) rs753372932 C G Exon 2 Coding Predicted  benign by PolyPhen2; apparently normal protein folding. Unknown. N68K Alzheimer's Disease: Unclear Pathogenicity In a Caucasian cohort, the N68K variant was found in one of 1105 ...

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