PRX periaxin

Information
Symbol
PRX
Type
protein-coding
Description
periaxin
Entrez Gene ID
57716
Genome
hg19
Position
chr19:40,899,675-40,920,700
Genome
hg38
Position
chr19:40,393,768-40,414,793
MIM
605725 OMIM
HGNC
HGNC:13797 HGNC
Ensembl
ENSG00000105227 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 114
Likely pathogenic 0 62
Benign 0 90
Likely benign 0 740
Conflicting classifications of pathogenicity 0 150
Uncertain significance 2 1,510
Ranking
ClinVar
0
0
674
1,714
68
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 CMT4F
MIM 605725 OMIM
HGNC HGNC:13797 HGNC
Ensembl ENSG00000105227 Ensembl
AllianceGenome HGNC:13797
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000674773.1 hg38 chr19 40,393,768 40,403,935 10,168
ENST00000673881.1 hg38 chr19 40,393,766 40,404,288 10,523
ENST00000291825.11 hg38 chr19 40,393,768 40,413,364 19,597
ENST00000674005.2 hg38 chr19 40,393,768 40,414,793 21,026
ENST00000324001.8 hg38 chr19 40,393,768 40,413,378 19,611
ENST00000673881.1 hg19 chr19 40,899,673 40,910,195 10,523
ENST00000674773.1 hg19 chr19 40,899,675 40,909,842 10,168
ENST00000291825.11 hg19 chr19 40,899,675 40,919,271 19,597
ENST00000324001.8 hg19 chr19 40,899,675 40,919,285 19,611
ENST00000674005.2 hg19 chr19 40,899,675 40,920,700 21,026
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