PHOX2B paired like homeobox 2B

Information
Symbol
PHOX2B
Type
protein-coding
Description
paired like homeobox 2B
Entrez Gene ID
8929
Genome
hg19
Position
chr4:41,746,099-41,750,742
Genome
hg38
Position
chr4:41,744,082-41,748,725
MIM
603851 OMIM
HGNC
HGNC:9143 HGNC
Ensembl
ENSG00000109132 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 114
Likely pathogenic 8 32
Benign 0 80
Likely benign 0 778
Conflicting classifications of pathogenicity 0 60
not provided 11 0
Uncertain significance 3 1,052
Ranking
ClinVar
0
0
778
1,232
6
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 CCHS
SYNONYM NBLST2
SYNONYM NBPhox
SYNONYM PMX2B
MIM 603851 OMIM
HGNC HGNC:9143 HGNC
Ensembl ENSG00000109132 Ensembl
AllianceGenome HGNC:9143
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000226382.4 hg38 chr4 41,744,082 41,748,725 4,644
ENST00000226382.4 hg19 chr4 41,746,099 41,750,742 4,644
KeyValue
strand-
start41,746,098
Gene SymbolPHOX2B
Entrez GeneId8,929
Chr Band4p12
end41,750,986
chrchr4
Namepaired-like homeobox 2b
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