Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R MUTATION
MC1R MUTATION
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.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000639847.1, ENST00000555427.1 )
MC1R p.Asp294Asn (p.D294N), ENSG00000198211 p.Asp294Asn (p.D294N) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp294His (p.D294H), ENSG00000198211 p.Asp294His (p.D294H) ( ENST00000639847.1, ENST00000555427.1, ENST00000555147.2 )
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 )
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp294Asn (p.D294N), ENSG00000198211 p.Asp294Asn (p.D294N) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp294His (p.D294H), ENSG00000198211 p.Asp294His (p.D294H) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
- Source Database
- DisGeNET
- Description
- Measures included past sun exposure by calendar and questionnaire, spectrophotometric skin type, and MC1R genotype, with any MC1R Arg151Cys, Arg160Trp, or Asp294His alleles present denoted as red hair color (RHC) variant.
- Pubmed
- 18711112
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00461451182536516
- Year of publication
- 2008
Drugs