Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R MUTATION
MC1R MUTATION
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Val92Leu (p.V92L), ENSG00000198211 p.Val92Leu (p.V92L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg151Gly (p.R151G), ENSG00000198211 p.Arg151Gly (p.R151G) ( ENST00000555427.1, ENST00000639847.1, ENST00000555147.2 )
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Val92Met (p.V92M), ENSG00000198211 p.Val92Met (p.V92M) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Val92Leu (p.V92L), ENSG00000198211 p.Val92Leu (p.V92L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg151Gly (p.R151G), ENSG00000198211 p.Arg151Gly (p.R151G) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed.
- Pubmed
- 22621339
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.284044374341104
- Year of publication
- 2013
Drugs