chr2:234669607:T>G Detail (hg19) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:234,669,607-234,669,607 |
| hg38 | chr2:233,760,961-233,760,961 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000463.2:c.674T>G | NP_000454.1:p.Val225Gly |
| Ensemble | ENST00000305208.10:c.674T>G | ENST00000305208.10:p.Val225Gly |
| ENST00000360418.4:c.674T>G | ENST00000360418.4:p.Val225Gly |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019075.2:c.856-6073T>G | |
| Ensemble | ENST00000373445.1:c.856-6073T>G | |
| ENST00000344644.10:c.856-6073T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019093.2:c.868-6073T>G | |
| Ensemble | ENST00000482026.6:c.868-6073T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007120.2:c.868-6073T>G | |
| Ensemble | ENST00000373409.8:c.868-6073T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019078.1:c.868-6073T>G | |
| Ensemble | ENST00000373414.4:c.868-6073T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001072.3:c.862-6073T>G | |
| NM_205862.1:c.61-6073T>G | ||
| Ensemble | ENST00000406651.1:c.61-6073T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019077.2:c.856-6073T>G | |
| Ensemble | ENST00000373426.4:c.856-6073T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019076.4:c.856-6073T>G | |
| Ensemble | ENST00000373450.5:c.856-6073T>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021027.2:c.856-6073T>G | |
| Ensemble | ENST00000354728.5:c.856-6073T>G |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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 | Conflicting classifications of pathogenicity; other |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2013-03-04 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2024-03-25 | criteria provided, multiple submitters, no conflicts | Gilbert syndrome |
germline
|
Detail |
Likely pathogenic
|
2017-04-27 | criteria provided, single submitter | Crigler-Najjar syndrome |
germline
|
Detail |
|
Uncertain significance
|
2017-04-27 | criteria provided, single submitter | Lucey-Driscoll syndrome |
germline
|
Detail |
| Conflicting interpretations of pathogenicity; other | 2023-12-06 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Uncertain significance
|
2022-03-28 | no assertion criteria provided | Crigler-Najjar syndrome type 1 |
unknown
|
Detail |
|
Likely pathogenic
|
2023-08-23 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Uncertain significance
|
2024-01-04 | criteria provided, single submitter | UGT1A1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.483 | Crigler Najjar syndrome, type 2 | Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferas... | UNIPROT | 11013440 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) AND Hyperbilirubinemia | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) AND Gilbert syndrome | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) AND Crigler-Najjar syndrome | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) AND Lucey-Driscoll syndrome | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) AND not provided | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) AND Crigler-Najjar syndrome type 1 | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) AND Inborn genetic diseases | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) AND UGT1A1-related disorder | ClinVar | Detail |
| Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing C... | 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
- rs35003977 dbSNP
- Genome
- hg19
- Position
- chr2:234,669,607-234,669,607
- 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)
- 121412
- Allele Counts in All Race (ExAC)
- 66
- Heterozygous Counts in All Race (ExAC)
- 66
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.436035976674464E-4
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