chr18:60372169:C>T Detail (hg38) (MC4R)

Information

Genome

Assembly Position
hg19 chr18:58,039,402-58,039,402 View the variant detail on this assembly version.
hg38 chr18:60,372,169-60,372,169

HGVS

Type Transcript Protein
RefSeq NM_005912.2:c.181G>A NP_005903.2:p.Glu61Lys
Ensemble ENST00000299766.5:c.181G>A ENST00000299766.5:p.Glu61Lys
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 Likely pathogenic
Review star
Show details
Links
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 2015-10-26 criteria provided, single submitter Obesity, autosomal dominant germline Detail
Pathogenic Likely pathogenic 2023-05-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2013-12-19 no assertion criteria provided obesity germline Detail
Likely pathogenic 2023-11-30 criteria provided, single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 germline Detail
Pathogenic 2024-01-08 criteria provided, single submitter MC4R-related disorder 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
<0.001 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

DescrptionSourceLinks
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) AND Obesity, autosomal dominant ClinVar Detail
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) AND not provided ClinVar Detail
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) AND Obesity ClinVar Detail
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ClinVar Detail
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) AND MC4R-related disorder ClinVar Detail
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) AND Obesity due to melanocortin 4 receptor deficiency ClinVar 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
rs370479598 dbSNP
Genome
hg38
Position
chr18:60,372,169-60,372,169
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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)
121398
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)
1.6474735992355723E-5
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