PXMP2 peroxisomal membrane protein 2

Information
Symbol
PXMP2
Type
protein-coding
Description
peroxisomal membrane protein 2
Entrez Gene ID
5827
Genome
hg19
Position
chr12:133,264,173-133,281,571
Genome
hg38
Position
chr12:132,687,587-132,704,985
MIM
617399 OMIM
HGNC
HGNC:9716 HGNC
Ensembl
ENSG00000176894 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
30
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 MPV17L3
SYNONYM PMP22
MIM 617399 OMIM
HGNC HGNC:9716 HGNC
Ensembl ENSG00000176894 Ensembl
AllianceGenome HGNC:9716
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000543589.5 hg38 chr12 132,687,642 132,704,985 17,344
ENST00000317479.8 hg38 chr12 132,687,587 132,704,985 17,399
ENST00000317479.8 hg19 chr12 133,264,173 133,281,571 17,399
ENST00000543589.5 hg19 chr12 133,264,228 133,281,571 17,344
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