chr19:45411987:G>A Detail (hg19) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,411,987-45,411,987
hg38 chr19:44,908,730-44,908,730 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.434G>A NP_000032.1:p.Gly145Asp
NM_001302688.1:c.434G>A NP_001289617.1:p.Gly145Asp
NM_001302689.1:c.434G>A NP_001289618.1:p.Gly145Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 107741 OMIM
HGNC 613 HGNC
Ensembl ENSG00000130203 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1984-04-01 no assertion criteria provided Hyperlipoproteinemia due to APOE1 germline Detail
Uncertain significance 2019-01-01 criteria provided, single submitter unknown Detail
Uncertain significance no assertion criteria provided not provided germline Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Lipoprotein glomerulopathy,Sea-blue histiocyte syndrome,Familial type 3 hyperlipoproteinemia,Alzheimer disease 4,age related macular degeneration 1,Alzheimer disease 2,Alzheimer disease 3 unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Lipoprotein glomerulopathy,Sea-blue histiocyte syndrome,Familial type 3 hyperlipoproteinemia,Alzheimer disease 4,age related macular degeneration 1,Alzheimer disease 2,Alzheimer disease 3 unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Lipoprotein glomerulopathy,Sea-blue histiocyte syndrome,Familial type 3 hyperlipoproteinemia,Alzheimer disease 4,age related macular degeneration 1,Alzheimer disease 2,Alzheimer disease 3 unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Lipoprotein glomerulopathy,Sea-blue histiocyte syndrome,Familial type 3 hyperlipoproteinemia,Alzheimer disease 4,age related macular degeneration 1,Alzheimer disease 2,Alzheimer disease 3 unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Lipoprotein glomerulopathy,Sea-blue histiocyte syndrome,Familial type 3 hyperlipoproteinemia,Alzheimer disease 4,age related macular degeneration 1,Alzheimer disease 2,Alzheimer disease 3 unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Lipoprotein glomerulopathy,Sea-blue histiocyte syndrome,Familial type 3 hyperlipoproteinemia,Alzheimer disease 4,age related macular degeneration 1,Alzheimer disease 2,Alzheimer disease 3 unknown Detail
Uncertain significance 2022-03-14 criteria provided, single submitter Lipoprotein glomerulopathy,Sea-blue histiocyte syndrome,Familial type 3 hyperlipoproteinemia,Alzheimer disease 4,age related macular degeneration 1,Alzheimer disease 2,Alzheimer disease 3 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000041.3(APOE):c.[434G>A;526C>T] AND Hyperlipoproteinemia due to APOE1 ClinVar Detail
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND Hypercholesterolemia ClinVar Detail
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND not provided ClinVar Detail
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND multiple conditions ClinVar Detail
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND multiple conditions ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267606664 dbSNP
Genome
hg19
Position
chr19:45,411,987-45,411,987
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
530
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
15904
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.772635814889336E-4
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