UGT1A5 UDP glucuronosyltransferase family 1 member A5

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: UGT1A5
Type: protein-coding
Description: UDP glucuronosyltransferase family 1 member A5
Entrez Gene ID: 54579
Genome: hg19
Position: chr2:234,621,553-234,681,946
Genome: hg38
Position: chr2:233,712,907-233,773,300
MIM: 606430 OMIM
HGNC: HGNC:12537 HGNC
Ensembl: ENSG00000288705 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	32	90
Likely pathogenic	0	44
Benign	0	44
Likely benign	0	114
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	9	0
other	0	2
Pathogenic; other	0	2
Uncertain significance	0	388

Ranking

	ClinVar
	0
	2
	158
	464
	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

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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

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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

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Target data	:	MGeND data only
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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 1-5
SYNONYM	UGT1E
MIM	606430 OMIM
HGNC	HGNC:12537 HGNC
Ensembl	ENSG00000288705 Ensembl
AllianceGenome	HGNC:12537

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000373414.4	hg38	chr2	233,712,907	233,773,300	60,394
ENST00000373414.4	hg19	chr2	234,621,553	234,681,946	60,394

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