Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
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.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
- Malignant neoplasm of skin
- Source Database
- DisGeNET
- Description
- MC1R gene sequencing identified in two NBCCS patients affected by multiple basal cell carcinomas a functional MC1R variant, D294H, previously shown to be associated with skin cancer risk.
- Pubmed
- 18539553
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0137675906059748
- Year of publication
- 2008
Drugs