chr18:58039398:T>C Detail (hg19) (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	chr18:58,039,398-58,039,398
hg38	chr18:60,372,165-60,372,165 View the variant detail on this assembly version.

HGVS

MC4R

Type	Transcript	Protein
RefSeq	NM_005912.2:c.185A>G	NP_005903.2:p.Asn62Ser
Ensemble	ENST00000299766.5:c.185A>G	ENST00000299766.5:p.Asn62Ser

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
Show details

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
Pathogenic	2003-03-20	no assertion criteria provided	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	germline	Detail
Likely pathogenic	2018-09-28	criteria provided, single submitter	Obesity due to melanocortin 4 receptor deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.791	obesity	NA	CLINVAR		Detail
<0.001	obesity	As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S...	BeFree	24780838	Detail
<0.001	obesity	As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S...	BeFree	24780838	Detail
0.791	obesity	As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S...	BeFree	24780838	Detail
<0.001	obesity	As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S...	BeFree	24780838	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	ClinVar	Detail
NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) AND Obesity due to melanocortin 4 receptor deficiency	ClinVar	Detail
NA	DisGeNET	Detail
As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ...	DisGeNET	Detail
As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ...	DisGeNET	Detail
As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ...	DisGeNET	Detail
As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ...	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: rs121913566 dbSNP
Genome: hg19
Position: chr18:58,039,398-58,039,398
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8646
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): 121400
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.237232289950576E-6

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