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
- Source Database
- DisGeNET
- Description
- The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
- Pubmed
- 8894704
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.284044374341104
- Year of publication
- 1996
Drugs