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 |
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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