chr4:3039150:T>C Detail (hg19) (GRK4)

Information

Genome

Assembly Position
hg19 chr4:3,039,150-3,039,150
hg38 chr4:3,037,423-3,037,423 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001004056.1:c.1361T>C NP_001004056.1:p.Val454Ala
NM_005307.2:c.1361T>C NP_005298.2:p.Val454Ala
NM_182982.2:c.1457T>C NP_892027.2:p.Val486Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.505
ToMMo:0.529
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.490

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 137026 OMIM
HGNC 4543 HGNC
Ensembl ENSG00000125388 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15853961 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
0.012 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

DescrptionSourceLinks
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
chr4:3,039,150-3,039,150
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
149.26
Standard deviation of sample read depth (HGVD)
68.33
Number of reference allele (HGVD)
1199
Number of alternative allele (HGVD)
1221
Allele Frequency (HGVD)
0.5045454545454545
Gene Symbol (HGVD)
GRK4
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1801058
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5289
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8863
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Homozygous Counts in All Race (ExAC)
24535
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
4235
East Asian Heterozygous Counts (ExAC)
2125
East Asian Homozygous Counts (ExAC)
1055
East Asian Allele Frequency (ExAC)
0.49027552674230146
Chromosome Counts in All Race (ExAC)
121388
Allele Counts in All Race (ExAC)
76057
Heterozygous Counts in All Race (ExAC)
26987
Allele Frequency in All Race (ExAC)
0.6265611098296372
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