UPK3A uroplakin 3A

Information
Symbol
UPK3A
Type
protein-coding
Description
uroplakin 3A
Entrez Gene ID
7380
Genome
hg19
Position
chr22:45,680,830-45,691,755
Genome
hg38
Position
chr22:45,284,949-45,295,874
MIM
611559 OMIM
HGNC
HGNC:12580 HGNC
Ensembl
ENSG00000100373 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 6 36
Likely benign 0 30
Conflicting classifications of pathogenicity 0 4
not provided 1 0
Uncertain significance 0 78
Ranking
ClinVar
0
0
38
84
6
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 UP3A
SYNONYM UPIII
SYNONYM UPIIIA
SYNONYM UPK3
MIM 611559 OMIM
HGNC HGNC:12580 HGNC
Ensembl ENSG00000100373 Ensembl
AllianceGenome HGNC:12580
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396082.2 hg38 chr22 45,284,991 45,295,822 10,832
ENST00000216211.9 hg38 chr22 45,284,949 45,295,874 10,926
ENST00000216211.9 hg19 chr22 45,680,830 45,691,755 10,926
ENST00000396082.2 hg19 chr22 45,680,872 45,691,703 10,832
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