chr18:58039350:G>A Detail (hg19) (MC4R)

Information

Genome

Assembly Position
hg19 chr18:58,039,350-58,039,350
hg38 chr18:60,372,117-60,372,117 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005912.2:c.233C>T NP_005903.2:p.Pro78Leu
Ensemble ENST00000299766.5:c.233C>T ENST00000299766.5:p.Pro78Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 2023-05-10 criteria provided, single submitter not provided 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
0.791 obesity Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her ... UNIPROT 10199800 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005912.3(MC4R):c.233C>T (p.Pro78Leu) AND not provided 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
Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her mother (BMI 37.55 kg... 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
-
Genome
hg19
Position
chr18:58,039,350-58,039,350
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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