UGT1A8 UDP glucuronosyltransferase family 1 member A8

Information
Symbol
UGT1A8
Type
protein-coding
Description
UDP glucuronosyltransferase family 1 member A8
Entrez Gene ID
54576
Genome
hg19
Position
chr2:234,526,279-234,681,946
Genome
hg38
Position
chr2:233,617,633-233,773,300
MIM
606433 OMIM
HGNC
HGNC:12540 HGNC
Ensembl
ENSG00000242366 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 32 90
Likely pathogenic 0 44
Benign 0 82
Likely benign 0 152
Benign; association 0 2
Conflicting classifications of pathogenicity 0 54
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 14 0
other 0 2
Pathogenic; other 0 2
Uncertain significance 0 630
Ranking
ClinVar
0
2
180
758
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
Entry Origin Type Annotation Entry Origin Annotation
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
Entry Origin Type Annotation
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
Entry Origin Type Annotation
TypeID
SYNONYM GNT1
SYNONYM UDPGT
SYNONYM UDPGT 1-1
SYNONYM UDPGT 1-8
SYNONYM UGT-1A
SYNONYM UGT-1H
SYNONYM UGT1
SYNONYM UGT1-01
SYNONYM UGT1-08
SYNONYM UGT1.1
SYNONYM UGT1.8
SYNONYM UGT1A
SYNONYM UGT1A1
SYNONYM UGT1A8S
SYNONYM UGT1H
SYNONYM hUG-BR1
MIM 606433 OMIM
HGNC HGNC:12540 HGNC
Ensembl ENSG00000242366 Ensembl
AllianceGenome HGNC:12540
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000373450.5 hg38 chr2 233,617,633 233,773,300 155,668
ENST00000373450.5 hg19 chr2 234,526,279 234,681,946 155,668
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