chr4:3004316:C>T Detail (hg38) (GRK4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:3,006,043-3,006,043 View the variant detail on this assembly version. |
hg38 | chr4:3,004,316-3,004,316 |
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 |
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
Descrption | Source | Links |
---|---|---|
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
- chr4:3,004,316-3,004,316
- 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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