GeneBe

UGT1A3

UDP glucuronosyltransferase family 1 member A3, the group of UDP glucuronosyltransferases

Basic information

Region (hg38): 2:233729042-233773300

Links

ENSG00000288702 ∙ NCBI:54659 ∙ OMIM:606428 ∙ HGNC:12535 ∙ Uniprot:P35503 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UGT1A3 gene.

  • not_provided (239 variants)
  • UGT1A1-related_disorder (91 variants)
  • Gilbert_syndrome (91 variants)
  • Lucey-Driscoll_syndrome (75 variants)
  • not_specified (65 variants)
  • Crigler-Najjar_syndrome_type_1 (64 variants)
  • Crigler-Najjar_syndrome,_type_II (56 variants)
  • Crigler-Najjar_syndrome (39 variants)
  • BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 (38 variants)
  • Inborn_genetic_diseases (23 variants)
  • Hyperbilirubinemia (16 variants)
  • UGT1A9-related_disorder (5 variants)
  • Irinotecan_response (3 variants)
  • UGT1A4-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UGT1A3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019093.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
30
clinvar
 33
missense
5
clinvar
17
clinvar
99
clinvar
10
clinvar
 131
nonsense
4
clinvar
3
clinvar
1
clinvar
 8
start loss
0
frameshift
6
clinvar
5
clinvar
 11
splice donor/acceptor (+/-2bp)
2
clinvar
4
clinvar
 6
Total 17 29 103 40 0

Highest pathogenic variant AF is 0.00048507

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP