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

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

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
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
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

DescrptionSourceLinks
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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