UGT1A1 UDP glucuronosyltransferase family 1 member A1

Information
Symbol
UGT1A1
Type
protein-coding
Description
UDP glucuronosyltransferase family 1 member A1
Entrez Gene ID
54658
Genome
hg19
Position
chr2:234,668,916-234,681,946
Genome
hg38
Position
chr2:233,760,270-233,773,300
MIM
191740 OMIM
HGNC
HGNC:12530 HGNC
Ensembl
ENSG00000241635 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 28 88
Likely pathogenic 0 44
Benign 0 28
Likely benign 0 80
Benign; association 0 2
Conflicting classifications of pathogenicity 0 50
Conflicting classifications of pathogenicity; drug response 0 2
Conflicting classifications of pathogenicity; other 0 6
Likely pathogenic; other 0 2
not provided 2 0
Uncertain significance 0 296
Ranking
ClinVar
0
0
150
328
38
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 :
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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 BILIQTL1
SYNONYM GNT1
SYNONYM HUG-BR1
SYNONYM UDPGT
SYNONYM UDPGT 1-1
SYNONYM UGT1
SYNONYM UGT1A
MIM 191740 OMIM
HGNC HGNC:12530 HGNC
Ensembl ENSG00000241635 Ensembl
AllianceGenome HGNC:12530
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000305208.10 hg38 chr2 233,760,270 233,773,300 13,031
ENST00000360418.4 hg38 chr2 233,760,288 233,771,615 11,328
ENST00000305208.10 hg19 chr2 234,668,916 234,681,946 13,031
ENST00000360418.4 hg19 chr2 234,668,934 234,680,261 11,328
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