PAX4 paired box 4

Information
Symbol
PAX4
Type
protein-coding
Description
paired box 4
Entrez Gene ID
5078
Genome
hg19
Position
chr7:127,250,346-127,258,196
Genome
hg38
Position
chr7:127,610,292-127,618,142
MIM
167413 OMIM
HGNC
HGNC:8618 HGNC
Ensembl
ENSG00000106331 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 54
Likely benign 0 102
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 142
Ranking
ClinVar
0
0
74
196
4
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 KPD
SYNONYM MODY9
MIM 167413 OMIM
HGNC HGNC:8618 HGNC
Ensembl ENSG00000106331 Ensembl
AllianceGenome HGNC:8618
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378740.6 hg38 chr7 127,610,811 127,615,928 5,118
ENST00000341640.6 hg38 chr7 127,610,292 127,615,726 5,435
ENST00000639438.3 hg38 chr7 127,610,292 127,618,142 7,851
ENST00000341640.6 hg19 chr7 127,250,346 127,255,780 5,435
ENST00000639438.3 hg19 chr7 127,250,346 127,258,196 7,851
ENST00000378740.6 hg19 chr7 127,250,865 127,255,982 5,118
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