chr2:233768259:C>T Detail (hg38) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:234,676,905-234,676,905 View the variant detail on this assembly version. |
| hg38 | chr2:233,768,259-233,768,259 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000463.2:c.1124C>T | NP_000454.1:p.Ser375Phe |
| Ensemble | ENST00000305208.10:c.1124C>T | ENST00000305208.10:p.Ser375Phe |
| ENST00000360418.4:c.1124C>T | ENST00000360418.4:p.Ser375Phe |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019075.2:c.1115C>T | NP_061948.1:p.Ser372Phe |
| Ensemble | ENST00000344644.10:c.1115C>T | ENST00000344644.10:p.Ser372Phe |
| ENST00000373445.1:c.1115C>T | ENST00000373445.1:p.Ser372Phe |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019093.2:c.1127C>T | NP_061966.1:p.Ser376Phe |
| Ensemble | ENST00000482026.6:c.1127C>T | ENST00000482026.6:p.Ser376Phe |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007120.2:c.1127C>T | NP_009051.1:p.Ser376Phe |
| Ensemble | ENST00000373409.8:c.1127C>T | ENST00000373409.8:p.Ser376Phe |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019078.1:c.1127C>T | NP_061951.1:p.Ser376Phe |
| Ensemble | ENST00000373414.4:c.1127C>T | ENST00000373414.4:p.Ser376Phe |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001072.3:c.1121C>T | NP_001063.2:p.Ser374Phe |
| NM_205862.1:c.320C>T | NP_995584.1:p.Ser107Phe | |
| Ensemble | ENST00000305139.11:c.1121C>T | ENST00000305139.11:p.Ser374Phe |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019077.2:c.1115C>T | NP_061950.2:p.Ser372Phe |
| Ensemble | ENST00000373426.4:c.1115C>T | ENST00000373426.4:p.Ser372Phe |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019076.4:c.1115C>T | NP_061949.3:p.Ser372Phe |
| Ensemble | ENST00000373450.5:c.1115C>T | ENST00000373450.5:p.Ser372Phe |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021027.2:c.1115C>T | NP_066307.1:p.Ser372Phe |
| Ensemble | ENST00000354728.5:c.1115C>T | ENST00000354728.5:p.Ser372Phe |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | 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 |
|---|---|---|---|---|---|
Pathogenic
|
1994-02-01 | no assertion criteria provided | Crigler-Najjar syndrome type 1 |
germline
|
Detail |
|
Pathogenic
|
2024-01-18 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-09-18 | criteria provided, single submitter | Crigler-Najjar syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe) AND Crigler-Najjar syndrome type 1 | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe) AND not provided | ClinVar | Detail |
| NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe) AND Crigler-Najjar 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
- rs72551353 dbSNP
- Genome
- hg38
- Position
- chr2:233,768,259-233,768,259
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser