Annotation Detail

Information
Associated Genes
MC4R
Associated Variants
MC4R p.Ile316Ser (p.I316S) ( ENST00000299766.5 )
MC4R p.Pro299His (p.P299H) ( ENST00000299766.5 )
MC4R p.Tyr287Ter (p.Y287*) ( ENST00000299766.5 )
MC4R p.Asn274Ser (p.N274S) ( ENST00000299766.5 )
MC4R p.Cys271Tyr (p.C271Y) ( ENST00000299766.5 )
MC4R p.Ile269Asn (p.I269N) ( ENST00000299766.5 )
MC4R p.Ala219Val (p.A219V) ( ENST00000299766.5 )
MC4R p.Ser180Pro (p.S180P) ( ENST00000299766.5 )
MC4R p.Ala175Thr (p.A175T) ( ENST00000299766.5 )
MC4R p.Ile170Val (p.I170V) ( ENST00000299766.5 )
MC4R p.Ser127Leu (p.S127L) ( ENST00000299766.5 )
MC4R p.Ile102Ser (p.I102S) ( ENST00000299766.5 )
MC4R p.Ile102Thr (p.I102T) ( ENST00000299766.5 )
MC4R p.Asn97Asp (p.N97D) ( ENST00000299766.5 )
MC4R p.Asn62Ser (p.N62S) ( ENST00000299766.5 )
MC4R p.Ser58Cys (p.S58C) ( ENST00000299766.5 )
MC4R p.Val50Met (p.V50M) ( ENST00000299766.5 )
MC4R p.Asp37Val (p.D37V) ( ENST00000299766.5 )
MC4R p.Tyr35Ter (p.Y35*) ( ENST00000299766.5 )
MC4R p.Ile316Ser (p.I316S) ( ENST00000299766.5 )
MC4R p.Pro299His (p.P299H) ( ENST00000299766.5 )
MC4R p.Tyr287Ter (p.Y287*) ( ENST00000299766.5 )
MC4R p.Asn274Ser (p.N274S) ( ENST00000299766.5 )
MC4R p.Cys271Tyr (p.C271Y) ( ENST00000299766.5 )
MC4R p.Ile269Asn (p.I269N) ( ENST00000299766.5 )
MC4R p.Ala219Val (p.A219V) ( ENST00000299766.5 )
MC4R p.Ser180Pro (p.S180P) ( ENST00000299766.5 )
MC4R p.Ala175Thr (p.A175T) ( ENST00000299766.5 )
MC4R p.Ile170Val (p.I170V) ( ENST00000299766.5 )
MC4R p.Ser127Leu (p.S127L) ( ENST00000299766.5 )
MC4R p.Ile102Ser (p.I102S) ( ENST00000299766.5 )
MC4R p.Ile102Thr (p.I102T) ( ENST00000299766.5 )
MC4R p.Asn97Asp (p.N97D) ( ENST00000299766.5 )
MC4R p.Asn62Ser (p.N62S) ( ENST00000299766.5 )
MC4R p.Ser58Cys (p.S58C) ( ENST00000299766.5 )
MC4R p.Val50Met (p.V50M) ( ENST00000299766.5 )
MC4R p.Asp37Val (p.D37V) ( ENST00000299766.5 )
MC4R p.Tyr35Ter (p.Y35*) ( ENST00000299766.5 )
MC4R p.Phe280CysfsTer12 (p.F280Cfs*12)
MC4R p.Phe280CysfsTer12 (p.F280Cfs*12)
Associated Disease
obesity
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.790574886740879
Year of publication
NA
Drugs