chr2:234590974:CG>AA Detail (hg19) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A9)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:234,590,974-234,590,975 |
| hg38 | chr2:233,682,328-233,682,329 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019075.2:c.855+44951_855+44952delinsAA | |
| Ensemble | ENST00000344644.10:c.855+44951_855+44952delinsAA | |
| ENST00000373445.1:c.855+44951_855+44952delinsAA |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019077.2:c.391_392delinsAA | NP_061950.2:p.Arg131Lys |
| Ensemble | ENST00000373426.4:c.391_392delinsAA | ENST00000373426.4:p.Arg131Lys |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019076.4:c.855+63766_855+63767delinsAA | |
| Ensemble | ENST00000373450.5:c.855+63766_855+63767delinsAA |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021027.2:c.855+9539_855+9540delinsAA | |
| Ensemble | ENST00000354728.5:c.855+9539_855+9540delinsAA |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | 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 |
| 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 | ||
| 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 |
|---|---|---|---|---|---|
| <0.001 | Adenocarcinoma of pancreas | Pancreatic adenocarcinoma was associated with the low detoxification activity UG... | BeFree | 12806614 | Detail |
| 0.005 | Malignant neoplasm of liver | UGT1A7 polymorphisms were present in 93.2% of hepatocellular cancer patients, 74... | BeFree | 11677206 | Detail |
| <0.001 | Malignant neoplasm of gastrointestinal tract | However, the UGT1A7*3 allele combining W208R, N129K and R131K missense mutations... | BeFree | 12122597 | Detail |
| <0.001 | Colorectal cancer metastatic | Genotyping of the UGT1A1*28, UGT1A7 N129K/R131K, and UGT1A7-57T/G variants was d... | BeFree | 18349289 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_019076.5(UGT1A8):c.855+63766_855+63767delinsAA AND not provided | ClinVar | Detail |
| Pancreatic adenocarcinoma was associated with the low detoxification activity UGT1A7*3 allele, which... | DisGeNET | Detail |
| UGT1A7 polymorphisms were present in 93.2% of hepatocellular cancer patients, 74.5% carried the UGT1... | DisGeNET | Detail |
| However, the UGT1A7*3 allele combining W208R, N129K and R131K missense mutations and exhibiting subs... | DisGeNET | Detail |
| Genotyping of the UGT1A1*28, UGT1A7 N129K/R131K, and UGT1A7-57T/G variants was done in 105 irinoteca... | 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
- rs386656364 dbSNP
- Genome
- hg19
- Position
- chr2:234,590,974-234,590,975
- Variant Type
- snv
- Reference Allele
- CG
- Alternative Allele
- AA
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