chr2:233768226:C>T Detail (hg38) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:234,676,872-234,676,872 View the variant detail on this assembly version. |
| hg38 | chr2:233,768,226-233,768,226 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000463.2:c.1091C>T | NP_000454.1:p.Pro364Leu |
| Ensemble | ENST00000305208.10:c.1091C>T | ENST00000305208.10:p.Pro364Leu |
| ENST00000360418.4:c.1091C>T | ENST00000360418.4:p.Pro364Leu |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019075.2:c.1082C>T | NP_061948.1:p.Pro361Leu |
| Ensemble | ENST00000344644.10:c.1082C>T | ENST00000344644.10:p.Pro361Leu |
| ENST00000373445.1:c.1082C>T | ENST00000373445.1:p.Pro361Leu |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019093.2:c.1094C>T | NP_061966.1:p.Pro365Leu |
| Ensemble | ENST00000482026.6:c.1094C>T | ENST00000482026.6:p.Pro365Leu |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007120.2:c.1094C>T | NP_009051.1:p.Pro365Leu |
| Ensemble | ENST00000373409.8:c.1094C>T | ENST00000373409.8:p.Pro365Leu |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019078.1:c.1094C>T | NP_061951.1:p.Pro365Leu |
| Ensemble | ENST00000373414.4:c.1094C>T | ENST00000373414.4:p.Pro365Leu |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001072.3:c.1088C>T | NP_001063.2:p.Pro363Leu |
| NM_205862.1:c.287C>T | NP_995584.1:p.Pro96Leu | |
| Ensemble | ENST00000305139.11:c.1088C>T | ENST00000305139.11:p.Pro363Leu |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019077.2:c.1082C>T | NP_061950.2:p.Pro361Leu |
| Ensemble | ENST00000373426.4:c.1082C>T | ENST00000373426.4:p.Pro361Leu |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019076.4:c.1082C>T | NP_061949.3:p.Pro361Leu |
| Ensemble | ENST00000373450.5:c.1082C>T | ENST00000373450.5:p.Pro361Leu |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021027.2:c.1082C>T | NP_066307.1:p.Pro361Leu |
| Ensemble | ENST00000354728.5:c.1082C>T | ENST00000354728.5:p.Pro361Leu |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.009 |
| ToMMo:0.004 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.012 |
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 | tgv10921172 | 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 | tgv10921172 | 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 | tgv10921172 | 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 | tgv10921172 | 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 | tgv10921172 | 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 | tgv10921172 | 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 | tgv10921172 | 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 | ||||
|
Pathogenic
|
Gerbert Syndrome |
germline
|
MGS000001
(TMGS000179) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2014-09-22 | criteria provided, single submitter |
germline
|
Detail | |
| Conflicting interpretations of pathogenicity; other | 2024-01-22 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2018-10-31 | criteria provided, single submitter | Lucey-Driscoll syndrome,Gilbert syndrome,Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1 |
unknown
|
Detail |
|
Likely pathogenic
|
2018-10-31 | criteria provided, single submitter | Lucey-Driscoll syndrome,Gilbert syndrome,Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1 |
unknown
|
Detail |
|
Likely pathogenic
|
2018-10-31 | criteria provided, single submitter | Lucey-Driscoll syndrome,Gilbert syndrome,Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1 |
unknown
|
Detail |
|
Likely pathogenic
|
2018-10-31 | criteria provided, single submitter | Lucey-Driscoll syndrome,Gilbert syndrome,Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1 |
unknown
|
Detail |
|
Likely pathogenic
|
2018-10-31 | criteria provided, single submitter | Lucey-Driscoll syndrome,Gilbert syndrome,Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome, type II,Bilirubin, serum level of, quantitative trait locus 1 |
unknown
|
Detail |
Conflicting interpretations of pathogenicity
|
2022-05-04 | criteria provided, conflicting interpretations | Gilbert syndrome |
germline
inherited
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Crigler-Najjar syndrome type 1 |
germline
|
Detail | |
Uncertain significance
|
2024-01-16 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Likely pathogenic
|
2023-10-11 | criteria provided, single submitter | UGT1A1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND Hyperbilirubinemia | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND not provided | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND multiple conditions | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND multiple conditions | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND multiple conditions | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND multiple conditions | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND multiple conditions | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND Gilbert syndrome | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND Crigler-Najjar syndrome type 1 | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND not specified | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND UGT1A1-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
- -
- dbSNP
- rs34946978 dbSNP
- Genome
- hg38
- Position
- chr2:233,768,226-233,768,226
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 156.64
- Standard deviation of sample read depth (HGVD)
- 69.89
- Number of reference allele (HGVD)
- 2399
- Number of alternative allele (HGVD)
- 21
- Allele Frequency (HGVD)
- 0.008677685950413223
- 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))
- rs34946978
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0041
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 69
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 106
- East Asian Heterozygous Counts (ExAC)
- 106
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.012251502542764678
- Chromosome Counts in All Race (ExAC)
- 121398
- Allele Counts in All Race (ExAC)
- 151
- Heterozygous Counts in All Race (ExAC)
- 151
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.001243842567422857
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