Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Ile317Thr (p.I317T)
(
ENST00000299766.5 )
MC4R p.Gly252Ser (p.G252S) ( ENST00000299766.5 )
MC4R p.Arg165Trp (p.R165W) ( ENST00000299766.5 )
MC4R p.Pro78Leu (p.P78L) ( ENST00000299766.5 )
MC4R p.Asp37Val (p.D37V) ( ENST00000299766.5 )
MC4R p.Ile317Thr (p.I317T) ( ENST00000299766.5 )
MC4R p.Gly252Ser (p.G252S) ( ENST00000299766.5 )
MC4R p.Arg165Trp (p.R165W) ( ENST00000299766.5 )
MC4R p.Pro78Leu (p.P78L) ( ENST00000299766.5 )
MC4R p.Asp37Val (p.D37V) ( ENST00000299766.5 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her mother (BMI 37.55 kg/m2, height 164 cm, age 42.5 years) were heterozygous for the deletion. b) A nonsense mutation at position 35 of the MC4-R was detected in two obese probands (BMI 31.29 kg/m2 and BMI 45.91 kg/m2).
- Pubmed
- 10199800
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.790574886740879
- Year of publication
- 1999
Drugs