chr2:234581003:T>G Detail (hg19) (UGT1A, UGT1A10, UGT1A8, UGT1A9)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:234,581,003-234,581,003 |
| hg38 | chr2:233,672,357-233,672,357 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019075.2:c.855+34980T>G | |
| Ensemble | ENST00000344644.10:c.855+34980T>G | |
| ENST00000373445.1:c.855+34980T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019076.4:c.855+53795T>G | |
| Ensemble | ENST00000373450.5:c.855+53795T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021027.2:c.423T>G | NP_066307.1:p.Ser141= |
| Ensemble | ENST00000354728.5:c.423T>G | ENST00000354728.5:p.Ser141= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Likely 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 | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2019-05-14 | criteria provided, single submitter | UGT1A9-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_021027.3(UGT1A9):c.423T>G (p.Ser141=) AND UGT1A9-related disorder | ClinVar | 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
- chr2:234,581,003-234,581,003
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121360
- Allele Counts in All Race (ExAC)
- 147
- Heterozygous Counts in All Race (ExAC)
- 147
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.0012112722478576138
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