chr18:58039075:T>C Detail (hg19) (MC4R)

Information

Genome

Assembly Position
hg19 chr18:58,039,075-58,039,075
hg38 chr18:60,371,842-60,371,842 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005912.2:c.508A>G NP_005903.2:p.Ile170Val
Ensemble ENST00000299766.5:c.508A>G ENST00000299766.5:p.Ile170Val
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 Conflicting classifications of pathogenicity
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 tgv60220621 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-04-04 criteria provided, conflicting interpretations BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 germline unknown Detail
Uncertain significance 2023-07-21 criteria provided, single submitter MC4R-related disorder germline Detail
Uncertain significance 2023-10-13 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.791 obesity NA CLINVAR Detail
0.791 obesity Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alph... UNIPROT 11487744 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ClinVar Detail
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) AND MC4R-related disorder ClinVar Detail
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) AND not provided ClinVar Detail
NA DisGeNET Detail
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimula... 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
rs121913560 dbSNP
Genome
hg19
Position
chr18:58,039,075-58,039,075
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8642
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)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1538017768547363E-4
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