chr4:2988772:G>T Detail (hg38) (GRK4)

Information

Genome

Assembly Position
hg19 chr4:2,990,499-2,990,499 View the variant detail on this assembly version.
hg38 chr4:2,988,772-2,988,772

HGVS

Type Transcript Protein
RefSeq NM_001004056.1:c.98G>T NP_001004056.1:p.Arg33Leu
NM_005307.2:c.98G>T NP_005298.2:p.Arg33Leu
NM_182982.2:c.194G>T NP_892027.2:p.Arg65Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.114
ToMMo:0.102
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.088

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 tgv15852386 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
0.003 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.006 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.013 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.024 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.003 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
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
0.003 essential hypertension Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themsel... BeFree 20153824 Detail
0.024 Hypertensive disease Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themsel... BeFree 20153824 Detail
0.347 Hypertensive disease Individuals having at least one NOS3 A allele and GRK4 R65L genotype GG had odds... BeFree 21167003 Detail
0.024 Hypertensive disease Individuals having at least one NOS3 A allele and GRK4 R65L genotype GG had odds... BeFree 21167003 Detail
0.005 Hypertensive disease Individuals having at least one NOS3 A allele and GRK4 R65L genotype GG had odds... BeFree 21167003 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
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... 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
Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr... DisGeNET Detail
Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their inte... DisGeNET Detail
Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their inte... DisGeNET Detail
Individuals having at least one NOS3 A allele and GRK4 R65L genotype GG had odds of HBP of 2.97 rela... DisGeNET Detail
Individuals having at least one NOS3 A allele and GRK4 R65L genotype GG had odds of HBP of 2.97 rela... DisGeNET Detail
Individuals having at least one NOS3 A allele and GRK4 R65L genotype GG had odds of HBP of 2.97 rela... 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
hg38
Position
chr4:2,988,772-2,988,772
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
126.61
Standard deviation of sample read depth (HGVD)
58.41
Number of reference allele (HGVD)
2143
Number of alternative allele (HGVD)
277
Allele Frequency (HGVD)
0.11446280991735537
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))
rs2960306
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1018
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1707
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
763
East Asian Heterozygous Counts (ExAC)
703
East Asian Homozygous Counts (ExAC)
30
East Asian Allele Frequency (ExAC)
0.08826931975937066
Chromosome Counts in All Race (ExAC)
121388
Allele Counts in All Race (ExAC)
39522
Heterozygous Counts in All Race (ExAC)
25242
Homozygous Counts in All Race (ExAC)
7140
Allele Frequency in All Race (ExAC)
0.32558407750354235
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