chr2:233760973:C>A Detail (hg38) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:234,669,619-234,669,619 View the variant detail on this assembly version. |
| hg38 | chr2:233,760,973-233,760,973 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000463.2:c.686C>A | NP_000454.1:p.Pro229Gln |
| Ensemble | ENST00000305208.10:c.686C>A | ENST00000305208.10:p.Pro229Gln |
| ENST00000360418.4:c.686C>A | ENST00000360418.4:p.Pro229Gln |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019075.2:c.856-6061C>A | |
| Ensemble | ENST00000344644.10:c.856-6061C>A | |
| ENST00000373445.1:c.856-6061C>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019093.2:c.868-6061C>A | |
| Ensemble | ENST00000482026.6:c.868-6061C>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007120.2:c.868-6061C>A | |
| Ensemble | ENST00000373409.8:c.868-6061C>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019078.1:c.868-6061C>A | |
| Ensemble | ENST00000373414.4:c.868-6061C>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001072.3:c.862-6061C>A | |
| NM_205862.1:c.61-6061C>A | ||
| Ensemble | ENST00000305139.11:c.862-6061C>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019077.2:c.856-6061C>A | |
| Ensemble | ENST00000373426.4:c.856-6061C>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019076.4:c.856-6061C>A | |
| Ensemble | ENST00000373450.5:c.856-6061C>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021027.2:c.856-6061C>A | |
| Ensemble | ENST00000354728.5:c.856-6061C>A |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.006 |
| ToMMo:0.005 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.018 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity; other |
| Review star |  |
| Show details | |
Links
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 | ||||
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
| Pathogenic; Affects | 2019-05-01 | no assertion criteria provided | Gilbert syndrome |
germline
inherited
|
Detail |
|
Pathogenic
|
2007-12-01 | no assertion criteria provided | Crigler-Najjar syndrome, type II |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2020-06-19 | criteria provided, conflicting interpretations | not specified |
germline
|
Detail |
| Conflicting interpretations of pathogenicity; other | 2024-01-18 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
Uncertain significance
|
2024-02-08 | 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 | UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT... | BeFree | 18004206 | Detail |
| 0.295 | Gilbert Disease (disorder) | UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT... | BeFree | 18004206 | Detail |
| 0.483 | Crigler Najjar syndrome, type 2 | Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferas... | UNIPROT | 11013440 | Detail |
| 0.295 | Gilbert Disease (disorder) | Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferas... | UNIPROT | 11013440 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) AND Gilbert syndrome | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) AND Crigler-Najjar syndrome, type II | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) AND not specified | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) AND not provided | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) AND UGT1A1-related disorder | ClinVar | Detail |
| UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and U... | DisGeNET | Detail |
| UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and U... | DisGeNET | Detail |
| Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing C... | DisGeNET | 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
- rs35350960 dbSNP
- Genome
- hg38
- Position
- chr2:233,760,973-233,760,973
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 256.07
- Standard deviation of sample read depth (HGVD)
- 116.23
- Number of reference allele (HGVD)
- 2406
- Number of alternative allele (HGVD)
- 14
- Allele Frequency (HGVD)
- 0.005785123966942148
- Gene Symbol (HGVD)
- UGT1A1
- 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))
- rs35350960
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0051
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 85
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 157
- East Asian Heterozygous Counts (ExAC)
- 153
- East Asian Homozygous Counts (ExAC)
- 2
- East Asian Allele Frequency (ExAC)
- 0.0181418996995609
- Chromosome Counts in All Race (ExAC)
- 121412
- Allele Counts in All Race (ExAC)
- 166
- Heterozygous Counts in All Race (ExAC)
- 160
- Homozygous Counts in All Race (ExAC)
- 3
- Allele Frequency in All Race (ExAC)
- 0.0013672454123150924
Genome browser