chr19:44908784:G>A Detail (hg38) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,412,041-45,412,041 View the variant detail on this assembly version.
hg38 chr19:44,908,784-44,908,784

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.488G>A NP_000032.1:p.Arg163His
NM_001302688.1:c.488G>A NP_001289617.1:p.Arg163His
NM_001302689.1:c.488G>A NP_001289618.1:p.Arg163His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Likely pathogenic
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 tgv62264678 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1990-11-01 no assertion criteria provided Familial type 3 hyperlipoproteinemia germline Detail
Likely pathogenic 2022-05-22 criteria provided, single submitter Lipoprotein glomerulopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.391 hyperlipoproteinemia type III NA CLINVAR Detail
0.494 Lipoprotein glomerulopathy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000041.4(APOE):c.488G>A (p.Arg163His) AND Familial type 3 hyperlipoproteinemia ClinVar Detail
NM_000041.4(APOE):c.488G>A (p.Arg163His) AND Lipoprotein glomerulopathy ClinVar Detail
NA DisGeNET 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
rs121918397 dbSNP
Genome
hg38
Position
chr19:44,908,784-44,908,784
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs121918397
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
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