PHC1 polyhomeotic homolog 1

Information
Symbol
PHC1
Type
protein-coding
Description
polyhomeotic homolog 1
Entrez Gene ID
1911
Genome
hg19
Position
chr12:9,067,105-9,094,063
Genome
hg38
Position
chr12:8,914,509-8,941,467
MIM
602978 OMIM
HGNC
HGNC:3182 HGNC
Ensembl
ENSG00000111752 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Benign 0 54
Likely benign 0 28
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 120
Ranking
ClinVar
0
0
14
190
2
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
SYNONYM EDR1
SYNONYM HPH1
SYNONYM MCPH11
SYNONYM RAE28
MIM 602978 OMIM
HGNC HGNC:3182 HGNC
Ensembl ENSG00000111752 Ensembl
AllianceGenome HGNC:3182
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000544916.6 hg38 chr12 8,914,509 8,941,467 26,959
ENST00000433083.6 hg38 chr12 8,914,731 8,941,467 26,737
ENST00000543824.5 hg38 chr12 8,914,553 8,940,404 25,852
ENST00000544916.6 hg19 chr12 9,067,105 9,094,063 26,959
ENST00000543824.5 hg19 chr12 9,067,149 9,093,000 25,852
ENST00000433083.6 hg19 chr12 9,067,327 9,094,063 26,737
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