PEX12 peroxisomal biogenesis factor 12

Information
Symbol
PEX12
Type
protein-coding
Description
peroxisomal biogenesis factor 12
Entrez Gene ID
5193
Genome
hg19
Position
chr17:33,901,814-33,905,590
Genome
hg38
Position
chr17:35,574,795-35,578,571
MIM
601758 OMIM
HGNC
HGNC:8854 HGNC
Ensembl
ENSG00000108733 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 154
Likely pathogenic 0 86
Benign 0 32
Likely benign 0 318
Conflicting classifications of pathogenicity 0 24
Uncertain significance 0 432
Ranking
ClinVar
0
0
150
792
14
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 PAF-3
SYNONYM PBD3A
MIM 601758 OMIM
HGNC HGNC:8854 HGNC
Ensembl ENSG00000108733 Ensembl
AllianceGenome HGNC:8854
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000225873.9 hg38 chr17 35,574,795 35,578,571 3,777
ENST00000225873.9 hg19 chr17 33,901,814 33,905,590 3,777
Genome browser