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224274 RESULTS

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 ...

TREM2 L72V

MUTATIONS TREM2 41129178 GRCh37 (105) rs765933093 C G Exon 2 Point, Missense Coding Predicted by SIFT to be tolerated but by Polyphen2 to be damaging. Unknown. L72V Alzheimer's Disease: Unclear Pathogenicity The L72V variant was found in one of 233 cognitively ...

TREM2 S116C

MUTATIONS TREM2 41129046 GRCh37 (105) A T Exon 2 Point, Missense Coding Cell-surface expression similar to that of wild-type TREM2 heterologously expressed in HEK293 cells. Unknown. S116C Alzheimer's Disease: Unclear Pathogenicity, Frontotemporal Dementia: ...

TREM2 A130S

MUTATIONS TREM2 41129004 GRCh37 (105) G T Exon 2 Point, Missense Coding Normal protein maturation when heterologously expressed in HEK293 cells. Unknown. A130S Alzheimer's Disease: Unclear Pathogenicity The A130S mutation was found in one of 245 cognitively ...

TREM2 R136W

MUTATIONS TREM2 41127606 GRCh37 (105) rs772641807 C T Exon 3 Point, Missense Coding Normal protein maturation, decreased total and cell-surface expression in HEK 293 cells; when stimulated by phospholipids, reporter cells expressing the R136W variant responded ...

TREM2 S162R

MUTATIONS TREM2 41126801 GRCh37 (105) rs371702633 C G Exon 4 Point, Missense Coding Normal protein maturation in HEK293 cells. Unknown. S162R Alzheimer's Disease: Unclear Pathogenicity, Frontotemporal Dementia: Unclear Pathogenicity In a Caucasian cohort from ...

TREM2 S183C

MUTATIONS TREM2 41126454 GRCh37 (105) rs200820365 A T Exon 4 of transcript variant 2 Point, Missense Coding Predicted to be possibly damaging by PolyPhen2. Unknown. S183C Alzheimer's Disease: Unclear Pathogenicity The S183C variant was found in a study of Han ...

TREM2 W200C

MUTATIONS TREM2 41126401 GRCh37 (105) G C Exon 4 of transcript variant 2 Point, Missense Coding Predicted to be probably damaging by Polyphen2. Unknown. W200C Alzheimer's Disease: Unclear Pathogenicity The W200C variant was found in a study of Han Chinese, ...

TREM2 E202D

MUTATIONS TREM2 41126395 GRCh37 (105) rs530314472 G T Exon 4 of transcript variant 2 Point, Missense Coding Unknown. Unknown. E202D Alzheimer's Disease: Unclear Pathogenicity In two cohorts of Caucasians, the E202 variant was found in one of 2077 Alzheimer’s ...

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