PHF5A PHD finger protein 5A

Information
Symbol
PHF5A
Type
protein-coding
Description
PHD finger protein 5A
Entrez Gene ID
84844
Genome
hg19
Position
chr22:41,855,721-41,864,696
Genome
hg38
Position
chr22:41,459,717-41,468,692
MIM
617846 OMIM
HGNC
HGNC:18000 HGNC
Ensembl
ENSG00000100410 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
4
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 INI
SYNONYM Rds3
SYNONYM SAP14b
SYNONYM SF3B7
SYNONYM SF3b14b
SYNONYM bK223H9.2
MIM 617846 OMIM
HGNC HGNC:18000 HGNC
Ensembl ENSG00000100410 Ensembl
AllianceGenome HGNC:18000
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000216252.4 hg38 chr22 41,459,717 41,468,692 8,976
ENST00000216252.4 hg19 chr22 41,855,721 41,864,696 8,976
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