WDR53 WD repeat domain 53

Information
Symbol
WDR53
Type
protein-coding
Description
WD repeat domain 53
Entrez Gene ID
348793
Genome
hg19
Position
chr3:196,281,048-196,295,425
Genome
hg38
Position
chr3:196,554,177-196,568,554
MIM
615110 OMIM
HGNC
HGNC:28786 HGNC
Ensembl
ENSG00000185798 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
not provided 4 0
Uncertain significance 0 36
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
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
MIM 615110 OMIM
HGNC HGNC:28786 HGNC
Ensembl ENSG00000185798 Ensembl
AllianceGenome HGNC:28786
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000332629.7 hg38 chr3 196,554,177 196,568,554 14,378
ENST00000433160.1 hg38 chr3 196,554,194 196,568,674 14,481
ENST00000429115.1 hg38 chr3 196,554,188 196,568,581 14,394
ENST00000332629.7 hg19 chr3 196,281,048 196,295,425 14,378
ENST00000429115.1 hg19 chr3 196,281,059 196,295,452 14,394
ENST00000433160.1 hg19 chr3 196,281,065 196,295,545 14,481
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