300519 RESULTS
MUTATIONS APOE 45412058_45412060 GRCh37/hg19- GAT Exon 4 Coding Unknown. D169dup Kidney Disorder: Lipoprotein Glomerulopathy This variant was found in an individual diagnosed with lipoprotein glomerulopathy (LPG), a rare kidney disorder in which the glomerular capi
MUTATIONS APOE 45412061 GRCh37/hg19 rs267606662 G C Exon 4 Coding Reduced receptor binding. A170P This variant was found in mRNA from the liver of a 57-year-old trauma victim who died of cardiac arrest during surgery (McLean et al., 1984). No medical history was av
MUTATIONS APOE 45412062 GRCh37/hg19 C A Exon 4 Coding Aggregation-prone. Reduced helical content, stability, predicted to induce misfolding. A170D Blood Lipids/Lipoproteins, Kidney Disorder: Lipoprotein Glomerulopathy This variant was identified in a 36-year-old ma
MUTATIONS APOE 45412071 GRCh37/hg19 T C Exon 4 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 25). L173P Blood Lipids/Lipoproteins, Kidney Disorder: Lipoprotein Glomerulopathy This variant was found in a 45-year-old Chinese woman with lipo
MUTATIONS APOE 45412073_45412124 GRCh37/hg19 CAGAAGCGCCTG... GCCGAGCGCGGC- Exon 4 Coding Unknown. Q174_G191del Blood Lipids/Lipoproteins, Cardiovascular Disease, Kidney Disorder: Lipoprotein Glomerulopathy This variant was identified in a 57-year-old Japanese man w
MUTATIONS APOE 45412079 GRCh37/hg19 rs7412 C T 45411941 GRCh37/hg19 rs429358 T C Exon 4 Coding When present in the same host, APOE2 appears to partially mitigate APOE4's harmful effects. [R176C];[C130R] Alzheimer's Disease, Multiple Conditions It is well-
MUTATIONS APOE 45412080 GRCh37/hg19 G C Exon 4 Coding Unknown, but structural analyses predicted changes affecting lipid and receptor binding. R176P Blood Lipids/Lipoproteins, Cardiovascular Disease, Kidney Disorder: Lipoprotein Glomerulopathy This mutation, affect
MUTATIONS APOE 45412103 GRCh37/hg19 G- Exon 4 Coding Unknown, but reduced plasma ApoE levels. A184Pfs Diabetes Mellitus This variant involves the deletion of a guanine that results in a frameshift with a predicted stop codon at position 250. It was identified in a
MUTATIONS APOE 45412104 GRCh37/hg19 C A Exon 4 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 23). A184D Blood Lipids/Lipoproteins This variant was identified in a population of 6,716 Southwestern American Indians in the U.S. (Kim et al.,
MUTATIONS APOE 45412145 GRCh37/hg19 rs1426426514 C T Exon 4 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 26). R198C Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type IV This variant was identified in a 42-year-old German woman with ty
MUTATIONS APOE 45412163 GRCh37/hg19 G T Exon 4 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 37). E204Ter Hyperlipoproteinemia Type IIa This variant was identified in a Chilean child who was homozygous for the mutation and suffered from p
MUTATIONS APOE 45412166 GRCh37/hg19 C G Exon 4 Coding Receptor and heparin binding appeared to be similar to those of wildtype ApoE3 protein. Q205E Cardiovascular Disease, Hyperlipoproteinemia Type III, Kidney Disorder This variant was identified in a 55-year-old J
MUTATIONS APOE 45412172 GRCh37/hg19 rs749750245 C T Exon 4 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 25). R207C Cardiovascular Disease A study of cardiovascular disease risk involving analyses of whole-genome and whole-exome sequencin
MUTATIONS APOE 45412187_45412189 (exact position N/A) GRCh37/hg19 Exon 4 Coding Unknown, but predicted benign in silico. May affect binding of ApoE to Ab. T212S Hyperlipoproteinemia Type III This variant was reported in a German individual with high triglyceride le
MUTATIONS APOE 45412197 GRCh37/hg19 C G Exon 4 Coding Unknown, but its PHRED-scaled CADD score was just below the commonly used threshold of 20 to predict deleteriousness (PHRED-scaled CADD = 19.5). S215C Hyperlipoproteinemia Type III, Kidney Disorder This variant
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