chr4:3006043:C>T Detail (hg19) (GRK4)

Information

Genome

Assembly Position
hg19 chr4:3,006,043-3,006,043
hg38 chr4:3,004,316-3,004,316 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001004056.1:c.329C>T NP_001004056.1:p.Ala110Val
NM_005307.2:c.329C>T NP_005298.2:p.Ala110Val
NM_182982.2:c.425C>T NP_892027.2:p.Ala142Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.163
ToMMo:0.159
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.182

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 tgv15852808 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
<0.001 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
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
chr4:3,006,043-3,006,043
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1142
Mean of sample read depth (HGVD)
37.53
Standard deviation of sample read depth (HGVD)
31.85
Number of reference allele (HGVD)
1911
Number of alternative allele (HGVD)
373
Allele Frequency (HGVD)
0.16330998248686515
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))
rs1024323
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1587
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2659
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
1578
East Asian Heterozygous Counts (ExAC)
1312
East Asian Homozygous Counts (ExAC)
133
East Asian Allele Frequency (ExAC)
0.18246993524514338
Chromosome Counts in All Race (ExAC)
121358
Allele Counts in All Race (ExAC)
44275
Heterozygous Counts in All Race (ExAC)
26387
Homozygous Counts in All Race (ExAC)
8944
Allele Frequency in All Race (ExAC)
0.36482967748314904
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