chr18:60371808:C>T Detail (hg38) (MC4R)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr18:58,039,041-58,039,041 View the variant detail on this assembly version.
hg38	chr18:60,371,808-60,371,808

HGVS

MC4R

Type	Transcript	Protein
RefSeq	NM_005912.2:c.542G>A	NP_005903.2:p.Gly181Asp
Ensemble	ENST00000299766.5:c.542G>A	ENST00000299766.5:p.Gly181Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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Links

MC4R

Type	Database	ID	Link
Gene	MIM	155541	OMIM
	HGNC	6932	HGNC
	Ensembl	ENSG00000166603	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-07-21	criteria provided, multiple submitters, no conflicts	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.791	obesity	This study shows a carrier frequency of 2.5% of pathogenic mutations in the MC4R...	UNIPROT	15486053	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005912.3(MC4R):c.542G>A (p.Gly181Asp) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	ClinVar	Detail
This study shows a carrier frequency of 2.5% of pathogenic mutations in the MC4R gene in a populatio...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs13447333 dbSNP
Genome: hg38
Position: chr18:60,371,808-60,371,808
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8644
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121338
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6482882526496234E-5

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