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300519 RESULTS

Lisa Roys


Scientex Conferences
United States

APOE W5Ter

MUTATIONS APOE 45409896 GRCh37/hg19 rs777551553 G A Exon 2 Coding Predicted to abrogate production of ApoE as it introduces a stop codon in the signal peptide. PHRED-scaled CADD = 35. W5Ter Blood Lipids/Lipoproteins This variant was reported as a deletion of a thre

APOE T11S

MUTATIONS APOE 45409912 GRCh37/hg19 rs144354013 A T Exon 2 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 0.6). T11S Alzheimer's Disease, Blood Lipids/Lipoproteins, Dementia This variant was examined in a study of dementia, including Alzhe

APOE A18T

MUTATIONS APOE 45411025 GRCh37/hg19 rs533904656 G A Exon 3 Coding Predicted to disrupt signal peptide cleavage and affect ApoE secretion. PHRED-scaled CADD = 22. A18T Alzheimer's Disease, Cardiovascular Disease This variant was reported in a small study in whi

APOE E21K

MUTATIONS APOE 45411034 GRCh37/hg19 rs121918392 G A Exon 3 Coding Increased receptor binding in cell-based LDL competition assay; no effect on heparin binding. E21K Multiple Conditions This variant has been found in multiple East Asian individuals with an abnormal

APOE A23V

MUTATIONS APOE 45411041 GRCh37/hg19 rs776242156 C T Exon 3 Coding Decreased plasma ApoE levels. A23V Alzheimer's Disease, Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type IIa This variant was examined in a study of dementia, including Alzheimer’s disease (

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