chr4:68647129:T>G Detail (hg38) (UGT2B15)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:69,512,847-69,512,847 View the variant detail on this assembly version. |
| hg38 | chr4:68,647,129-68,647,129 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001076.3:c.1568A>C | NP_001067.2:p.Lys523Thr |
| Ensemble | ENST00000338206.6:c.1568A>C | ENST00000338206.6:p.Lys523Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.137 |
| ToMMo:0.161 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.171 |
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 | Rectal Carcinoma | A haplotype in UGT2B15 containing a functional variant (rs4148269, K523T) and an... | BeFree | 24822274 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A haplotype in UGT2B15 containing a functional variant (rs4148269, K523T) and an intronic SNP (rs683... | 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
- chr4:68,647,129-68,647,129
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- Filtering Status (HGVD)
- VQSRTrancheSNP99.00to99.90
- # of samples (HGVD)
- 1117
- Mean of sample read depth (HGVD)
- 114.90
- Standard deviation of sample read depth (HGVD)
- 54.06
- Number of reference allele (HGVD)
- 1927
- Number of alternative allele (HGVD)
- 307
- Allele Frequency (HGVD)
- 0.13742166517457474
- Gene Symbol (HGVD)
- UGT2B15
- 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))
- rs4148269
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1607
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2694
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 1476
- East Asian Heterozygous Counts (ExAC)
- 1228
- East Asian Homozygous Counts (ExAC)
- 124
- East Asian Allele Frequency (ExAC)
- 0.17063583815028902
- Chromosome Counts in All Race (ExAC)
- 121262
- Allele Counts in All Race (ExAC)
- 66194
- Heterozygous Counts in All Race (ExAC)
- 26482
- Homozygous Counts in All Race (ExAC)
- 19856
- Allele Frequency in All Race (ExAC)
- 0.5458758720786396
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