Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R MUTATION
MC1R MUTATION
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000639847.1, ENST00000555427.1 )
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- Pallor
- Source Database
- DisGeNET
- Description
- The R160W MC1R change has previously been implicated in a red hair/pale skin phenotype, and MC2R -T152K is trafficking defective.
- Pubmed
- 22337906
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2012
Drugs