chr19:44908783:C>T Detail (hg38) (APOE)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

APOE

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
	NM_001302690.1:c.487C>T	NP_001289619.1:p.Arg163Cys
	NM_001302691.1:c.487C>T	NP_001289620.1:p.Arg163Cys
Ensemble	ENST00000252486.9:c.487C>T	ENST00000252486.9: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
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Links

APOE

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	tgv405851988	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

Descrption	Source	Links
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: hg38
Position: chr19:44,908,783-44,908,783
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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