UGT1A3

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

Basic information

Region (hg38): 2:233729042-233773300

Links

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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 2 of 2.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
`ENST00000482026.6`	`ENSP00000418532.1`	5	yes	-
`NM_000019093.4`	`NP_000061966.1`	5	yes	-

Phenotypes

GenCC

Source: genCC

No genCC data.

Loading mutation effect viewer...

ClinVar

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

not_provided (264 variants)
Gilbert_syndrome (92 variants)
UGT1A1-related_disorder (91 variants)
Lucey-Driscoll_syndrome (76 variants)
not_specified (73 variants)
Crigler-Najjar_syndrome_type_1 (65 variants)
Crigler-Najjar_syndrome,_type_II (57 variants)
Crigler-Najjar_syndrome (40 variants)
BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1 (39 variants)
Inborn_genetic_diseases (26 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	32 clinvar	1 clinvar	35
missense	5 clinvar	19 clinvar	112 clinvar	10 clinvar		146
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	31	115	42	1

Highest pathogenic variant AF is 0.00048507

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP