chr2:233693545:A>G Detail (hg38) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A9)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:234,602,191-234,602,191 View the variant detail on this assembly version. |
| hg38 | chr2:233,693,545-233,693,545 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019075.2:c.855+56168A>G | |
| Ensemble | ENST00000344644.10:c.855+56168A>G | |
| ENST00000373445.1:c.855+56168A>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001072.3:c.541A>G | NP_001063.2:p.Thr181Ala |
| NM_205862.1:c.-7-254A>G | ||
| Ensemble | ENST00000305139.11:c.541A>G | ENST00000305139.11:p.Thr181Ala |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019077.2:c.855+10753A>G | |
| Ensemble | ENST00000373426.4:c.855+10753A>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019076.4:c.856-73489A>G | |
| Ensemble | ENST00000373450.5:c.856-73489A>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021027.2:c.855+20756A>G | |
| Ensemble | ENST00000354728.5:c.855+20756A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.239 |
| ToMMo:0.248 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.193 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606435 | OMIM |
| HGNC | 12531 | HGNC | |
| Ensembl | ENSG00000242515 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv10918035 | TogoVar |
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606431 | OMIM |
| HGNC | 12538 | HGNC | |
| Ensembl | ENSG00000167165 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv10918035 | TogoVar |
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606432 | OMIM |
| HGNC | 12539 | HGNC | |
| Ensembl | ENSG00000244122 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv10918035 | TogoVar |
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2023-11-30 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | asthma | We found for the first time significant associations of CYP1B1 V432L (P=0.045), ... | BeFree | 19575027 | Detail |
| 0.003 | asthma | We found for the first time significant associations of CYP1B1 V432L (P=0.045), ... | BeFree | 19575027 | Detail |
| 0.003 | asthma | We found for the first time significant associations of CYP1B1 V432L (P=0.045), ... | BeFree | 19575027 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_019076.5(UGT1A8):c.856-73489A>G AND not provided | ClinVar | Detail |
| We found for the first time significant associations of CYP1B1 V432L (P=0.045), PON1 Q192R (P=0.039)... | DisGeNET | Detail |
| We found for the first time significant associations of CYP1B1 V432L (P=0.045), PON1 Q192R (P=0.039)... | DisGeNET | Detail |
| We found for the first time significant associations of CYP1B1 V432L (P=0.045), PON1 Q192R (P=0.039)... | 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
- -
- dbSNP
- rs2070959 dbSNP
- Genome
- hg38
- Position
- chr2:233,693,545-233,693,545
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 247.78
- Standard deviation of sample read depth (HGVD)
- 112.71
- Number of reference allele (HGVD)
- 1842
- Number of alternative allele (HGVD)
- 578
- Allele Frequency (HGVD)
- 0.23884297520661157
- Gene Symbol (HGVD)
- UGT1A6
- 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))
- rs2070959
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2477
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4152
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 1665
- East Asian Heterozygous Counts (ExAC)
- 1335
- East Asian Homozygous Counts (ExAC)
- 165
- East Asian Allele Frequency (ExAC)
- 0.19266373524647074
- Chromosome Counts in All Race (ExAC)
- 121378
- Allele Counts in All Race (ExAC)
- 38032
- Heterozygous Counts in All Race (ExAC)
- 25156
- Homozygous Counts in All Race (ExAC)
- 6438
- Allele Frequency in All Race (ExAC)
- 0.3133352007777357
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