chr4:3040155:C>T Detail (hg19) (GRK4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:3,040,155-3,040,155 |
hg38 | chr4:3,038,428-3,038,428 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001004056.1:c.1502C>T | NP_001004056.1:p.Ala501Val |
NM_005307.2:c.1449+917C>T | ||
NM_182982.2:c.1598C>T | NP_892027.2:p.Ala533Val |
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 |
---|---|---|---|---|---|
0.012 | essential hypertension | Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP... | BeFree | 12446468 | Detail |
0.171 | essential hypertension | Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP... | BeFree | 12446468 | Detail |
0.003 | essential hypertension | Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP... | BeFree | 12446468 | Detail |
<0.001 | essential hypertension | Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP... | BeFree | 12446468 | Detail |
<0.001 | obesity | The obesity risk increased with GRK4 A486V, ACE, and SLC12A3 variants in boys, w... | BeFree | 25768006 | Detail |
0.003 | essential hypertension | Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themsel... | BeFree | 20153824 | Detail |
0.024 | Hypertensive disease | Structure and Function of the Hypertension Variant A486V of G Protein-coupled Re... | BeFree | 26134571 | Detail |
0.139 | obesity | Among girls, the obesity risk increased in GRK4 A486V heterozygote and CYP11β-2 ... | BeFree | 25768006 | Detail |
0.024 | Hypertensive disease | Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themsel... | BeFree | 20153824 | Detail |
<0.001 | myocardial infarction | We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L ... | BeFree | 22949529 | Detail |
<0.001 | Cerebrovascular accident | We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L ... | BeFree | 22949529 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr... | DisGeNET | Detail |
Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr... | DisGeNET | Detail |
Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr... | DisGeNET | Detail |
Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr... | DisGeNET | Detail |
The obesity risk increased with GRK4 A486V, ACE, and SLC12A3 variants in boys, whereas it increased ... | DisGeNET | Detail |
Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their inte... | DisGeNET | Detail |
Structure and Function of the Hypertension Variant A486V of G Protein-coupled Receptor Kinase 4. | DisGeNET | Detail |
Among girls, the obesity risk increased in GRK4 A486V heterozygote and CYP11β-2 mutant homozygote al... | DisGeNET | Detail |
Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their inte... | DisGeNET | Detail |
We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L (rs2960306), A142V (... | DisGeNET | Detail |
We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L (rs2960306), A142V (... | 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
- chr4:3,040,155-3,040,155
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8636
- East Asian Allele Counts (ExAC)
- 4
- East Asian Heterozygous Counts (ExAC)
- 4
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 4.631773969430292E-4
- Chromosome Counts in All Race (ExAC)
- 121108
- Allele Counts in All Race (ExAC)
- 6
- Heterozygous Counts in All Race (ExAC)
- 6
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.954255705651154E-5
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