POC1B POC1 centriolar protein B

Information
Symbol
POC1B
Type
protein-coding
Description
POC1 centriolar protein B
Entrez Gene ID
282809
Genome
hg19
Position
chr12:89,813,495-89,919,824
Genome
hg38
Position
chr12:89,419,718-89,526,047
MIM
614784 OMIM
HGNC
HGNC:30836 HGNC
Ensembl
ENSG00000139323 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 58
Likely pathogenic 0 18
Benign 0 50
Likely benign 0 246
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 374
Ranking
ClinVar
0
0
60
674
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 CORD20
SYNONYM PIX1
SYNONYM TUWD12
SYNONYM WDR51B
MIM 614784 OMIM
HGNC HGNC:30836 HGNC
Ensembl ENSG00000139323 Ensembl
AllianceGenome HGNC:30836
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000313546.8 hg38 chr12 89,419,718 89,526,047 106,330
ENST00000549035.1 hg38 chr12 89,420,896 89,525,563 104,668
ENST00000549504.1 hg38 chr12 89,425,287 89,525,205 99,919
ENST00000393179.8 hg38 chr12 89,419,718 89,525,615 105,898
ENST00000393179.8 hg19 chr12 89,813,495 89,919,392 105,898
ENST00000313546.8 hg19 chr12 89,813,495 89,919,824 106,330
ENST00000549035.1 hg19 chr12 89,814,673 89,919,340 104,668
ENST00000549504.1 hg19 chr12 89,819,064 89,918,982 99,919
Genome browser