chr18:58038722:A>T Detail (hg19) (MC4R)

Information

Genome

Assembly Position
hg19 chr18:58,038,722-58,038,722
hg38 chr18:60,371,489-60,371,489 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005912.2:c.861T>A NP_005903.2:p.Tyr287Ter
Ensemble ENST00000299766.5:c.861T>A ENST00000299766.5:p.Tyr287Ter
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 2003-03-20 no assertion criteria provided BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 germline Detail
Pathogenic 2018-09-20 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
Annotation

Annotations

DescrptionSourceLinks
NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ClinVar Detail
NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter) AND Obesity due to melanocortin 4 receptor deficiency ClinVar 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
rs121917829 dbSNP
Genome
hg19
Position
chr18:58,038,722-58,038,722
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser