Annotation Detail

Information
Associated Genes
MC1R
Associated Variants
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555147.2, ENST00000639847.1, ENST00000555427.1 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555427.1, ENST00000639847.1, ENST00000555147.2 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
Associated Disease
Melanoma, cutaneous malignant, susceptibility to, 5
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.36
Year of publication
NA
Drugs