chr8:27358505:A>G Detail (hg19) (EPHX2)

Information

Genome

Assembly Position
hg19 chr8:27,358,505-27,358,505
hg38 chr8:27,500,988-27,500,988 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001256482.1:c.5A>G NP_001243411.1:p.Lys2Arg
NM_001256484.1:c.5A>G NP_001243413.1:p.Lys2Arg
NM_001979.5:c.164A>G NP_001970.2:p.Lys55Arg
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 Benign
Review star
Show details
Links
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
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-21 criteria provided, single submitter EPHX2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Ischemic Cerebrovascular Accident Homozygosity for the EPHX2 K55R polymorphism increases the long-term risk of isc... BeFree 20065888 Detail
0.005 Cardiovascular Diseases Associations between the EPHX2 Lys55Arg and Arg287Gln polymorphisms and cardiova... BeFree 21098312 Detail
0.083 Hypertensive disease The functional K55R polymorphism of the EPHX2 gene confers a higher risk of hype... BeFree 20065888 Detail
<0.001 Coronary heart disease There are several functional polymorphisms in the EPHX2 gene: two of them, the K... BeFree 20065888 Detail
0.004 Ischemic stroke Homozygosity for the EPHX2 K55R polymorphism increases the long-term risk of isc... BeFree 20065888 Detail
0.008 Coronary Arteriosclerosis There are several functional polymorphisms in the EPHX2 gene: two of them, the K... BeFree 20065888 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001979.6(EPHX2):c.164A>G (p.Lys55Arg) AND EPHX2-related disorder ClinVar Detail
Homozygosity for the EPHX2 K55R polymorphism increases the long-term risk of ischemic stroke in men:... DisGeNET Detail
Associations between the EPHX2 Lys55Arg and Arg287Gln polymorphisms and cardiovascular disease risk ... DisGeNET Detail
The functional K55R polymorphism of the EPHX2 gene confers a higher risk of hypertension prevalence ... DisGeNET Detail
There are several functional polymorphisms in the EPHX2 gene: two of them, the K55R and R287Q, showi... DisGeNET Detail
Homozygosity for the EPHX2 K55R polymorphism increases the long-term risk of ischemic stroke in men:... DisGeNET Detail
There are several functional polymorphisms in the EPHX2 gene: two of them, the K55R and R287Q, showi... 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
chr8:27,358,505-27,358,505
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3153507756425097E-4
Chromosome Counts in All Race (ExAC)
121148
Allele Counts in All Race (ExAC)
10913
Heterozygous Counts in All Race (ExAC)
9591
Homozygous Counts in All Race (ExAC)
661
Allele Frequency in All Race (ExAC)
0.09007990226829993
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