chrX:78272820:G>A Detail (hg38) (CYSLTR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:77,528,317-77,528,317 View the variant detail on this assembly version. |
| hg38 | chrX:78,272,820-78,272,820 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001282187.1:c.927C>T | NP_001269116.1:p.Phe309= |
| NM_001282188.1:c.927C>T | NP_001269117.1:p.Phe309= | |
| NM_006639.3:c.927C>T | NP_006630.1:p.Phe309= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.533 |
| ToMMo:0.541 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.636 |
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 | asthma | In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene recepto... | BeFree | 18829683 | Detail |
| 0.010 | asthma | In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene recepto... | BeFree | 18829683 | Detail |
| 0.055 | asthma | A TaqMan allelic discrimination assay was used to genotype a 927T/C SNP and olig... | BeFree | 16776674 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene receptor 1 gene, rs1047266 ... | DisGeNET | Detail |
| In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene receptor 1 gene, rs1047266 ... | DisGeNET | Detail |
| A TaqMan allelic discrimination assay was used to genotype a 927T/C SNP and oligonucleotide ligation... | 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
- chrX:78,272,820-78,272,820
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1190
- Mean of sample read depth (HGVD)
- 43.75
- Standard deviation of sample read depth (HGVD)
- 24.18
- Number of reference allele (HGVD)
- 1112
- Number of alternative allele (HGVD)
- 1268
- Allele Frequency (HGVD)
- 0.5327731092436975
- Gene Symbol (HGVD)
- CYSLTR1
- 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))
- rs320995
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5415
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6954
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12843
- East Asian Chromosome Counts (ExAC)
- 6599
- East Asian Allele Counts (ExAC)
- 4195
- East Asian Heterozygous Counts (ExAC)
- 1077
- East Asian Homozygous Counts (ExAC)
- 934
- East Asian Allele Frequency (ExAC)
- 0.6357023791483558
- Chromosome Counts in All Race (ExAC)
- 87132
- Allele Counts in All Race (ExAC)
- 63727
- Heterozygous Counts in All Race (ExAC)
- 10208
- Homozygous Counts in All Race (ExAC)
- 14615
- Allele Frequency in All Race (ExAC)
- 0.7313845659459212
- East Asian Hemizygous Counts (ExAC)
- 1250
- Hemizygous Counts in All Race (ExAC)
- 24289
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