PHF12 PHD finger protein 12

Information
Symbol
PHF12
Type
protein-coding
Description
PHD finger protein 12
Entrez Gene ID
57649
Genome
hg19
Position
chr17:27,232,268-27,278,536
Genome
hg38
Position
chr17:28,905,250-28,951,518
MIM
618645 OMIM
HGNC
HGNC:20816 HGNC
Ensembl
ENSG00000109118 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 4
not provided 1 0
Uncertain significance 0 74
Ranking
ClinVar
0
0
0
82
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
SYNONYM PF1
MIM 618645 OMIM
HGNC HGNC:20816 HGNC
Ensembl ENSG00000109118 Ensembl
AllianceGenome HGNC:20816
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000577226.5 hg38 chr17 28,905,253 28,951,307 46,055
ENST00000332830.9 hg38 chr17 28,905,250 28,951,518 46,269
ENST00000268756.7 hg38 chr17 28,912,144 28,951,490 39,347
ENST00000332830.9 hg19 chr17 27,232,268 27,278,536 46,269
ENST00000577226.5 hg19 chr17 27,232,271 27,278,325 46,055
ENST00000268756.7 hg19 chr17 27,239,162 27,278,508 39,347
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