chr8:27361241:C>T Detail (hg19) (EPHX2)

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

Genome

Assembly	Position
hg19	chr8:27,361,241-27,361,241
hg38	chr8:27,503,724-27,503,724 View the variant detail on this assembly version.

HGVS

EPHX2

Type	Transcript	Protein
RefSeq	NM_001256482.1:c.148C>T	NP_001243411.1:p.Arg50Cys
	NM_001256484.1:c.148C>T	NP_001243413.1:p.Arg50Cys
	NM_001979.5:c.307C>T	NP_001970.2:p.Arg103Cys
	NM_001256483.1:c.109C>T	NP_001243412.1:p.Arg37Cys
Ensemble	ENST00000380476.7:c.148C>T	ENST00000380476.7:p.Arg50Cys
	ENST00000517536.5:c.186+2714C>T
	ENST00000518379.5:c.307C>T	ENST00000518379.5:p.Arg103Cys
	ENST00000521400.6:c.307C>T	ENST00000521400.6:p.Arg103Cys
	ENST00000521780.5:c.109C>T	ENST00000521780.5:p.Arg37Cys

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
Review star	[No Data.]
Show details

Links

EPHX2

Type	Database	ID	Link
Gene	MIM	132811	OMIM
	HGNC	3402	HGNC
	Ensembl	ENSG00000120915	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	Myocardial Ischemia	We genotyped participants from the Copenhagen City Heart Study (n=10 352), the C...	BeFree	19940276	Detail

Annotation

Annotations

Descrption	Source	Links
We genotyped participants from the Copenhagen City Heart Study (n=10 352), the Copenhagen General Po...	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: -
Genome: hg19
Position: chr8:27,361,241-27,361,241
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8530
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): 120406
Allele Counts in All Race (ExAC): 1715
Heterozygous Counts in All Race (ExAC): 1621
Homozygous Counts in All Race (ExAC): 47
Allele Frequency in All Race (ExAC): 0.014243476238725645

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