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224274 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 ...

Hariom Soni


Post Graduate Institute of Medical Education and Research
Chandigarh, India

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 ...

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