POMC proopiomelanocortin

Information
Symbol
POMC
Type
protein-coding
Description
proopiomelanocortin
Entrez Gene ID
5443
Genome
hg19
Position
chr2:25,383,784-25,391,772
Genome
hg38
Position
chr2:25,160,915-25,168,903
MIM
176830 OMIM
HGNC
HGNC:9201 HGNC
Ensembl
ENSG00000115138 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 8
Benign 0 16
Likely benign 0 46
Conflicting classifications of pathogenicity 0 22
not provided 2 0
Uncertain significance 0 138
Ranking
ClinVar
0
0
52
168
12
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 ACTH
SYNONYM CLIP
SYNONYM LPH
SYNONYM MSH
SYNONYM NPP
SYNONYM OBAIRH
SYNONYM POC
MIM 176830 OMIM
HGNC HGNC:9201 HGNC
Ensembl ENSG00000115138 Ensembl
AllianceGenome HGNC:9201
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380794.5 hg38 chr2 25,160,853 25,168,690 7,838
ENST00000395826.7 hg38 chr2 25,160,860 25,168,580 7,721
ENST00000405623.5 hg38 chr2 25,160,915 25,168,903 7,989
ENST00000264708.7 hg38 chr2 25,160,985 25,168,571 7,587
ENST00000380794.5 hg19 chr2 25,383,722 25,391,559 7,838
ENST00000395826.7 hg19 chr2 25,383,729 25,391,449 7,721
ENST00000405623.5 hg19 chr2 25,383,784 25,391,772 7,989
ENST00000264708.7 hg19 chr2 25,383,854 25,391,440 7,587
Genome browser