WDR54 WD repeat domain 54

Information
Symbol
WDR54
Type
protein-coding
Description
WD repeat domain 54
Entrez Gene ID
84058
Genome
hg19
Position
chr2:74,648,857-74,652,882
Genome
hg38
Position
chr2:74,421,730-74,425,755
MIM
620826 OMIM
HGNC
HGNC:25770 HGNC
Ensembl
ENSG00000005448 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
62
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 :
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 620826 OMIM
HGNC HGNC:25770 HGNC
Ensembl ENSG00000005448 Ensembl
AllianceGenome HGNC:25770
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000348227.4 hg38 chr2 74,421,730 74,425,755 4,026
ENST00000409791.5 hg38 chr2 74,421,729 74,425,754 4,026
ENST00000409791.5 hg19 chr2 74,648,856 74,652,881 4,026
ENST00000348227.4 hg19 chr2 74,648,857 74,652,882 4,026
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