UGT2B17 UDP glucuronosyltransferase family 2 member B17

Information
Symbol
UGT2B17
Type
protein-coding
Description
UDP glucuronosyltransferase family 2 member B17
Entrez Gene ID
7367
Genome
hg19
Position
chr4:69,402,891-69,442,040
Genome
hg38
Position
chr4:68,537,173-68,576,322
MIM
601903 OMIM
HGNC
HGNC:12547 HGNC
Ensembl
ENSG00000197888 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 22
Likely benign 0 12
Conflicting classifications of pathogenicity 0 2
not provided 2 0
Uncertain significance 0 44
Ranking
ClinVar
0
0
10
66
2
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 BMND12
SYNONYM UDPGT2B17
MIM 601903 OMIM
HGNC HGNC:12547 HGNC
Ensembl ENSG00000197888 Ensembl
AllianceGenome HGNC:12547
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000317746.3 hg38 chr4 68,537,173 68,576,322 39,150
ENST00000317746.3 hg19 chr4 69,402,891 69,442,040 39,150
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