PHF1 PHD finger protein 1

Information
Symbol
PHF1
Type
protein-coding
Description
PHD finger protein 1
Entrez Gene ID
5252
Genome
hg19
Position
chr6:33,378,791-33,384,216
Genome
hg38
Position
chr6:33,411,014-33,416,439
MIM
602881 OMIM
HGNC
HGNC:8919 HGNC
Ensembl
ENSG00000112511 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 1 0
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
36
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 MTF2L2
SYNONYM PCL1
SYNONYM PHF2
SYNONYM TDRD19C
SYNONYM hPHF1
MIM 602881 OMIM
HGNC HGNC:8919 HGNC
Ensembl ENSG00000112511 Ensembl
AllianceGenome HGNC:8919
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374512.7 hg38 chr6 33,410,961 33,416,453 5,493
ENST00000374516.8 hg38 chr6 33,411,014 33,416,439 5,426
ENST00000374512.7 hg19 chr6 33,378,738 33,384,230 5,493
ENST00000374516.8 hg19 chr6 33,378,791 33,384,216 5,426
Genome browser