chr2:234669294:G>C Detail (hg19) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:234,669,294-234,669,294 |
| hg38 | chr2:233,760,648-233,760,648 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000463.2:c.361G>C | NP_000454.1:p.Ala121Pro |
| Ensemble | ENST00000305208.10:c.361G>C | ENST00000305208.10:p.Ala121Pro |
| ENST00000360418.4:c.361G>C | ENST00000360418.4:p.Ala121Pro |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019075.2:c.856-6386G>C | |
| Ensemble | ENST00000344644.10:c.856-6386G>C | |
| ENST00000373445.1:c.856-6386G>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019093.2:c.868-6386G>C | |
| Ensemble | ENST00000482026.6:c.868-6386G>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007120.2:c.868-6386G>C | |
| Ensemble | ENST00000373409.8:c.868-6386G>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019078.1:c.868-6386G>C | |
| Ensemble | ENST00000373414.4:c.868-6386G>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001072.3:c.862-6386G>C | |
| NM_205862.1:c.61-6386G>C | ||
| Ensemble | ENST00000305139.11:c.862-6386G>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019077.2:c.856-6386G>C | |
| Ensemble | ENST00000373426.4:c.856-6386G>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019076.4:c.856-6386G>C | |
| Ensemble | ENST00000373450.5:c.856-6386G>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021027.2:c.856-6386G>C | |
| Ensemble | ENST00000354728.5:c.856-6386G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 191740 | OMIM |
| HGNC | 12530 | HGNC | |
| Ensembl | ENSG00000241635 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| 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 | 606428 | OMIM |
| HGNC | 12535 | HGNC | |
| Ensembl | ENSG00000288702 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606429 | OMIM |
| HGNC | 12536 | HGNC | |
| Ensembl | ENSG00000244474 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606430 | OMIM |
| HGNC | 12537 | HGNC | |
| Ensembl | ENSG00000288705 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | 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 | ||
| 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 |
|---|---|---|---|---|---|
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Crigler-Najjar syndrome |
germline
|
Detail |
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Lucey-Driscoll syndrome |
germline
|
Detail |
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Gilbert syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) AND Crigler-Najjar syndrome | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) AND Lucey-Driscoll syndrome | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) AND Gilbert syndrome | 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
- -
- dbSNP
- rs1697515818 dbSNP
- Genome
- hg19
- Position
- chr2:234,669,294-234,669,294
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser