chr19:45412040:C>T Detail (hg19) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,412,040-45,412,040
hg38 chr19:44,908,783-44,908,783 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.487C>T NP_000032.1:p.Arg163Cys
NM_001302688.1:c.487C>T NP_001289617.1:p.Arg163Cys
NM_001302689.1:c.487C>T NP_001289618.1:p.Arg163Cys
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 Conflicting classifications of pathogenicity
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 Likely pathogenic 2020-01-06 no assertion criteria provided Familial type 3 hyperlipoproteinemia germline Detail
Pathogenic 1992-11-01 no assertion criteria provided Familial type 3 hyperlipoproteinemia germline Detail
Conflicting interpretations of pathogenicity 2020-11-14 criteria provided, conflicting interpretations not provided germline Detail
Benign 2021-02-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2019-09-06 criteria provided, single submitter germline Detail
Likely benign 2023-08-05 criteria provided, single submitter APOE-related disorder 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_000041.4(APOE):c.487C>T (p.Arg163Cys) AND Familial type 3 hyperlipoproteinemia ClinVar Detail
NM_000041.3(APOE):c.[487C>T;91G>A] AND Familial type 3 hyperlipoproteinemia ClinVar Detail
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) AND not provided ClinVar Detail
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) AND not specified ClinVar Detail
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) AND Cardiovascular phenotype ClinVar Detail
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) AND APOE-related disorder 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
rs769455 dbSNP
Genome
hg19
Position
chr19:45,412,040-45,412,040
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
584
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)
14800
Allele Counts in All Race (ExAC)
39
Heterozygous Counts in All Race (ExAC)
37
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.002635135135135135
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