chr18:58039478:G>T 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	chr18:58,039,478-58,039,478
hg38	chr18:60,372,245-60,372,245 View the variant detail on this assembly version.

HGVS

MC4R

Type	Transcript	Protein
RefSeq	NM_005912.2:c.105C>A	NP_005903.2:p.Tyr35Ter
Ensemble	ENST00000299766.5:c.105C>A	ENST00000299766.5:p.Tyr35Ter

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	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	2020-01-22	criteria provided, multiple submitters, no conflicts	obesity	germline	Detail
Uncertain significance	2014-12-23	no assertion criteria provided	schizophrenia	germline	Detail
Pathogenic	2023-12-16	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	1999-04-01	no assertion criteria provided	obesity	germline	Detail
Pathogenic	2021-12-27	criteria provided, multiple submitters, no conflicts	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	germline unknown	Detail
Pathogenic	2018-09-19	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
0.120	schizophrenia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) AND Obesity	ClinVar	Detail
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) AND Schizophrenia	ClinVar	Detail
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) AND not provided	ClinVar	Detail
NM_005912.3(MC4R):c.[105C>A;110A>T] AND Obesity	ClinVar	Detail
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	ClinVar	Detail
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) AND Obesity due to melanocortin 4 receptor deficiency	ClinVar	Detail
NA	DisGeNET	Detail
NA	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: rs13447324 dbSNP
Genome: hg19
Position: chr18:58,039,478-58,039,478
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8634
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): 121074
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.95564695971059E-5

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