chr18:60372178:T>A Detail (hg38) (MC4R)

Information

Genome

Assembly Position
hg19 chr18:58,039,411-58,039,411 View the variant detail on this assembly version.
hg38 chr18:60,372,178-60,372,178

HGVS

Type Transcript Protein
RefSeq NM_005912.2:c.172A>T NP_005903.2:p.Ser58Cys
Ensemble ENST00000299766.5:c.172A>T ENST00000299766.5:p.Ser58Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
Pathogenic 2001-08-01 no assertion criteria provided BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 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

DescrptionSourceLinks
NM_005912.3(MC4R):c.172A>T (p.Ser58Cys) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 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
rs121913558 dbSNP
Genome
hg38
Position
chr18:60,372,178-60,372,178
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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