MC3R melanocortin 3 receptor

Information
Symbol
MC3R
Type
protein-coding
Description
melanocortin 3 receptor
Entrez Gene ID
4159
Genome
hg19
Position
chr20:54,823,788-54,824,871
Genome
hg38
Position
chr20:56,248,732-56,249,815
MIM
155540 OMIM
HGNC
HGNC:6931 HGNC
Ensembl
ENSG00000124089 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 30
Conflicting classifications of pathogenicity 0 4
not provided 1 0
risk factor 0 4
Uncertain significance 0 62
Ranking
ClinVar
0
0
18
74
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 BMIQ9
SYNONYM MC3
SYNONYM MC3-R
SYNONYM OB20
SYNONYM OQTL
MIM 155540 OMIM
HGNC HGNC:6931 HGNC
Ensembl ENSG00000124089 Ensembl
AllianceGenome HGNC:6931
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000243911.2 hg38 chr20 56,248,732 56,249,815 1,084
ENST00000243911.2 hg19 chr20 54,823,788 54,824,871 1,084
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