chr18:60371403:A>C Detail (hg38) (MC4R)

Information

Genome

Assembly Position
hg19 chr18:58,038,636-58,038,636 View the variant detail on this assembly version.
hg38 chr18:60,371,403-60,371,403

HGVS

Type Transcript Protein
RefSeq NM_005912.2:c.947T>G NP_005903.2:p.Ile316Ser
Ensemble ENST00000299766.5:c.947T>G ENST00000299766.5:p.Ile316Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2021-12-23 criteria provided, multiple submitters, no conflicts BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 germline unknown Detail
Likely pathogenic 2017-04-28 criteria provided, single submitter obesity germline Detail
Pathogenic 2022-02-24 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
0.124 hyperinsulinism Homozygous MC4R mutations, M161T and I316S, identified separately in 2 subjects ... BeFree 22463805 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ClinVar Detail
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) AND Obesity ClinVar Detail
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) AND Obesity due to melanocortin 4 receptor deficiency ClinVar Detail
NA DisGeNET Detail
Homozygous MC4R mutations, M161T and I316S, identified separately in 2 subjects (3.2%), were associa... 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
rs121913564 dbSNP
Genome
hg38
Position
chr18:60,371,403-60,371,403
Variant Type
snv
Reference Allele
A
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
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)
121412
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)
4.941850887885876E-5
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