MC4R melanocortin 4 receptor

Information
Symbol
MC4R
Type
protein-coding
Description
melanocortin 4 receptor
Entrez Gene ID
4160
Genome
hg19
Position
chr18:58,038,295-58,040,008
Genome
hg38
Position
chr18:60,371,062-60,372,775
MIM
155541 OMIM
HGNC
HGNC:6932 HGNC
Ensembl
ENSG00000166603 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 52
Likely pathogenic 0 46
Benign 4 14
Likely benign 0 32
Conflicting classifications of pathogenicity 0 32
Uncertain significance 0 164
Ranking
ClinVar
0
0
84
180
24
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 BMIQ20
MIM 155541 OMIM
HGNC HGNC:6932 HGNC
Ensembl ENSG00000166603 Ensembl
AllianceGenome HGNC:6932
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000299766.5 hg38 chr18 60,371,062 60,372,775 1,714
ENST00000299766.5 hg19 chr18 58,038,295 58,040,008 1,714
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