chr19:44909083:G>A Detail (hg38) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,412,340-45,412,340 View the variant detail on this assembly version.
hg38 chr19:44,909,083-44,909,083

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.787G>A NP_000032.1:p.Glu263Lys
NM_001302688.1:c.787G>A NP_001289617.1:p.Glu263Lys
NM_001302689.1:c.787G>A NP_001289618.1:p.Glu263Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.011
ToMMo:0.008
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.008

Prediction

ClinVar

Clinical Significance no classification for the single variant
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 tgv62264724 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1995-08-01 no assertion criteria provided HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.391 hyperlipoproteinemia type III NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000041.3(APOE):c.[784G>A;787G>A] AND HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIAT... ClinVar Detail
NA DisGeNET 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
rs190853081 dbSNP
Genome
hg38
Position
chr19:44,909,083-44,909,083
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1177
Mean of sample read depth (HGVD)
44.97
Standard deviation of sample read depth (HGVD)
23.15
Number of reference allele (HGVD)
2329
Number of alternative allele (HGVD)
25
Allele Frequency (HGVD)
0.010620220900594732
Gene Symbol (HGVD)
APOE
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs190853081
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0082
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
137
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16746
East Asian Chromosome Counts (ExAC)
1654
East Asian Allele Counts (ExAC)
13
East Asian Heterozygous Counts (ExAC)
13
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.007859733978234583
Chromosome Counts in All Race (ExAC)
30224
Allele Counts in All Race (ExAC)
13
Heterozygous Counts in All Race (ExAC)
13
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.301217575436739E-4
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