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 (22 variants)
• Crigler-Najjar syndrome type 1 (6 variants)
• Crigler-Najjar syndrome (4 variants)
• UGT1A1-related disorder (4 variants)
• Hyperbilirubinemia (2 variants)
• Gilbert syndrome (2 variants)
• Crigler-Najjar syndrome, type II (2 variants)
• Crigler-Najjar syndrome type 1;Gilbert syndrome;Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome (1 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			5	20		25
missense	2	9	69	3		83
nonsense	4		2			6
start loss						0
frameshift	4					4
inframe indel			2			2
splice donor/acceptor (+/-2bp)	1	3				4
splice region			2	1		3
non coding	15	11	84	24	12	146
Total	26	23	162	47	12

Highest pathogenic variant AF is 0.0000919

Variants in UGT1A3

This is a list of pathogenic ClinVar variants found in the UGT1A3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-233729061-T-C		Levothyroxine response	other (-)
2-233729155-C-T		not specified	Uncertain significance (Jun 29, 2023)
2-233729257-T-A		not specified	Uncertain significance (May 24, 2023)
2-233729361-A-T		not specified	Uncertain significance (Feb 17, 2023)
2-233729401-A-G		not specified	Uncertain significance (Jul 05, 2023)
2-233729401-A-T		not specified	Likely benign (Dec 06, 2021)
2-233729424-T-C		not specified	Uncertain significance (Dec 13, 2022)
2-233729464-G-C		not specified	Likely benign (Feb 12, 2024)
2-233729472-A-G		not specified	Uncertain significance (Oct 12, 2022)
2-233729506-C-G		not specified	Uncertain significance (May 30, 2024)
2-233729522-A-G			Likely benign (Feb 01, 2024)
2-233729562-T-C		not specified	Uncertain significance (Mar 26, 2024)
2-233729598-G-A		not specified	Uncertain significance (Aug 12, 2022)
2-233729599-C-T			Likely benign (Jul 16, 2018)
2-233729793-A-G		not specified	Uncertain significance (Nov 12, 2021)
2-233729811-G-C			Uncertain significance (Aug 09, 2019)
2-233729930-A-G			Likely benign (Sep 01, 2022)
2-233729945-G-A		not specified	Uncertain significance (Mar 31, 2024)
2-233729953-T-C		not specified	Uncertain significance (Sep 08, 2023)
2-233729976-A-G		not specified	Uncertain significance (Oct 06, 2021)
2-233743483-T-C		not specified	Uncertain significance (Sep 16, 2021)
2-233743531-A-T		not specified	Uncertain significance (Sep 16, 2021)
2-233743622-C-T			Benign (Apr 04, 2018)
2-233743834-A-G		not specified	Uncertain significance (Jul 20, 2021)
2-233756997-A-G		UGT1A1-related disorder	Likely benign (Sep 21, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP