UGT1A3 UDP glucuronosyltransferase family 1 member A3

Go to:

Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
Genome browser

Information

Symbol: UGT1A3
Type: protein-coding
Description: UDP glucuronosyltransferase family 1 member A3
Entrez Gene ID: 54659
Genome: hg19
Position: chr2:234,637,688-234,681,946
Genome: hg38
Position: chr2:233,729,042-233,773,300
MIM: 606428 OMIM
HGNC: HGNC:12535 HGNC
Ensembl: ENSG00000288702 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	32	90
Likely pathogenic	0	44
Benign	0	34
Likely benign	0	96
Benign; association	0	2
Conflicting classifications of pathogenicity	0	52
Conflicting classifications of pathogenicity; drug response	0	2
Conflicting classifications of pathogenicity; other	0	6
drug response	0	2
Likely pathogenic; other	0	2
not provided	7	0
other	0	2
Pathogenic; other	0	2
Uncertain significance	0	330

Ranking

	ClinVar
	0
	2
	156
	380
	40

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	UDPGT
SYNONYM	UDPGT 1-3
SYNONYM	UGT-1C
SYNONYM	UGT1-03
SYNONYM	UGT1.3
SYNONYM	UGT1A3S
SYNONYM	UGT1C
MIM	606428 OMIM
HGNC	HGNC:12535 HGNC
Ensembl	ENSG00000288702 Ensembl
AllianceGenome	HGNC:12535

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000482026.6	hg38	chr2	233,729,042	233,773,300	44,259
ENST00000482026.6	hg19	chr2	234,637,688	234,681,946	44,259

Genome browser