chr4:88766492:G>A Detail (hg19) (MEPE)

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

Genome

Assembly	Position
hg19	chr4:88,766,492-88,766,492
hg38	chr4:87,845,340-87,845,340 View the variant detail on this assembly version.

HGVS

MEPE

Type	Transcript	Protein
RefSeq	NM_020203.3:c.472G>A	NP_064588.1:p.Val158Met
	NM_001291183.1:c.565G>A	NP_001278112.1:p.Val189Met
	NM_001184694.2:c.472G>A	NP_001171623.1:p.Val158Met
	NM_001184697.1:c.*290G>A
Ensemble	ENST00000361056.4:c.472G>A	ENST00000361056.4:p.Val158Met
	ENST00000395102.8:c.565G>A	ENST00000395102.8:p.Val189Met
	ENST00000424957.8:c.472G>A	ENST00000424957.8:p.Val158Met
	ENST00000497649.6:c.400G>A	ENST00000497649.6:p.Val134Met
	ENST00000560249.6:c.*290G>A

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.]
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Links

MEPE

Type	Database	ID	Link
Gene	MIM	605912	OMIM
	HGNC	13361	HGNC
	Ensembl	ENSG00000152595	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
0.178	attention deficit hyperactivity disorder	We genotyped a sample of 45 adults with ADHD at four candidate polymorphisms for...	BeFree	17886261	Detail
<0.001	attention deficit hyperactivity disorder	We genotyped a sample of 45 adults with ADHD at four candidate polymorphisms for...	BeFree	17886261	Detail
0.329	attention deficit hyperactivity disorder	We genotyped a sample of 45 adults with ADHD at four candidate polymorphisms for...	BeFree	17886261	Detail
0.340	attention deficit hyperactivity disorder	We genotyped a sample of 45 adults with ADHD at four candidate polymorphisms for...	BeFree	17886261	Detail

Annotation

Annotations

Descrption	Source	Links
We genotyped a sample of 45 adults with ADHD at four candidate polymorphisms for the disorder (DRD4 ...	DisGeNET	Detail
We genotyped a sample of 45 adults with ADHD at four candidate polymorphisms for the disorder (DRD4 ...	DisGeNET	Detail
We genotyped a sample of 45 adults with ADHD at four candidate polymorphisms for the disorder (DRD4 ...	DisGeNET	Detail
We genotyped a sample of 45 adults with ADHD at four candidate polymorphisms for the disorder (DRD4 ...	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: chr4:88,766,492-88,766,492
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8646
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): 121034
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.478642364955302E-5

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