PHF8 PHD finger protein 8

Information
Symbol
PHF8
Type
protein-coding
Description
PHD finger protein 8
Entrez Gene ID
23133
Genome
hg19
Position
chrX:53,963,109-54,071,682
Genome
hg38
Position
chrX:53,936,676-54,045,249
MIM
300560 OMIM
HGNC
HGNC:20672 HGNC
Ensembl
ENSG00000172943 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 12
Benign 0 20
Likely benign 0 106
Conflicting classifications of pathogenicity 0 8
not provided 6 2
Uncertain significance 0 202
Ranking
ClinVar
0
0
42
300
20
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 JHDM1F
SYNONYM KDM7B
SYNONYM MRXSSD
SYNONYM ZNF422
MIM 300560 OMIM
HGNC HGNC:20672 HGNC
Ensembl ENSG00000172943 Ensembl
AllianceGenome HGNC:20672
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396282.7 hg38 chrX 53,937,498 54,042,728 105,231
ENST00000338946.11 hg38 chrX 53,936,694 54,042,728 106,035
ENST00000322659.12 hg38 chrX 53,943,256 54,043,194 99,939
ENST00000357988.9 hg38 chrX 53,936,676 54,045,249 108,574
ENST00000338154.11 hg38 chrX 53,936,680 54,044,473 107,794
ENST00000338154.11 hg19 chrX 53,963,113 54,070,906 107,794
ENST00000357988.9 hg19 chrX 53,963,109 54,071,682 108,574
ENST00000338946.11 hg19 chrX 53,963,127 54,069,161 106,035
ENST00000396282.7 hg19 chrX 53,963,931 54,069,161 105,231
ENST00000322659.12 hg19 chrX 53,969,689 54,069,627 99,939
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