MC1R melanocortin 1 receptor

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: MC1R
Type: protein-coding
Description: melanocortin 1 receptor
Entrez Gene ID: 4157
Genome: hg19
Position: chr16:89,981,255-89,987,359
Genome: hg38
Position: chr16:89,914,847-89,920,951
MIM: 155555 OMIM
HGNC: HGNC:6929 HGNC
Ensembl: ENSG00000258839 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Likely pathogenic	0	4
Benign	0	128
Likely benign	3	242
Conflicting classifications of pathogenicity	0	50
Conflicting classifications of pathogenicity; risk factor	0	2
not provided	3	2
risk factor	0	2
Uncertain significance	6	584

Ranking

	ClinVar
	0
	0
	150
	760
	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

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	CMM5
SYNONYM	MSH-R
SYNONYM	SHEP2
MIM	155555 OMIM
HGNC	HGNC:6929 HGNC
Ensembl	ENSG00000258839 Ensembl
AllianceGenome	HGNC:6929

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000639847.1	hg38	chr16	89,914,847	89,920,951	6,105
ENST00000555147.2	hg38	chr16	89,918,862	89,920,972	2,111
ENST00000555427.1	hg38	chr16	89,913,418	89,920,973	7,556
ENST00000555427.1	hg19	chr16	89,979,826	89,987,381	7,556
ENST00000639847.1	hg19	chr16	89,981,255	89,987,359	6,105
ENST00000555147.2	hg19	chr16	89,985,270	89,987,380	2,111

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