UHRF1 ubiquitin like with PHD and ring finger domains 1

Information
Symbol
UHRF1
Type
protein-coding
Description
ubiquitin like with PHD and ring finger domains 1
Entrez Gene ID
29128
Genome
hg19
Position
chr19:4,910,379-4,961,143
Genome
hg38
Position
chr19:4,910,367-4,961,132
MIM
607990 OMIM
HGNC
HGNC:12556 HGNC
Ensembl
ENSG00000276043 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
44
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 ICBP90
SYNONYM Np95
SYNONYM RNF106
SYNONYM TDRD22
SYNONYM hNP95
SYNONYM hUHRF1
SYNONYM huNp95
MIM 607990 OMIM
HGNC HGNC:12556 HGNC
Ensembl ENSG00000276043 Ensembl
AllianceGenome HGNC:12556
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000612630.4 hg38 chr19 4,903,080 4,962,154 59,075
ENST00000616255.1 hg38 chr19 4,910,375 4,960,952 50,578
ENST00000620565.4 hg38 chr19 4,909,430 4,962,150 52,721
ENST00000624301.3 hg38 chr19 4,909,498 4,962,151 52,654
ENST00000622802.4 hg38 chr19 4,910,367 4,961,132 50,766
ENST00000615884.4 hg38 chr19 4,910,146 4,960,961 50,816
ENST00000650932.1 hg38 chr19 4,909,501 4,962,154 52,654
ENST00000612630.4 hg19 chr19 4,903,092 4,962,165 59,074
ENST00000620565.4 hg19 chr19 4,909,442 4,962,161 52,720
ENST00000624301.3 hg19 chr19 4,909,510 4,962,162 52,653
ENST00000650932.1 hg19 chr19 4,909,513 4,962,165 52,653
ENST00000615884.4 hg19 chr19 4,910,158 4,960,972 50,815
ENST00000622802.4 hg19 chr19 4,910,379 4,961,143 50,765
ENST00000616255.1 hg19 chr19 4,910,387 4,960,963 50,577
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