Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
CDKN2A p.Gly101Trp (p.G101W)
(
ENST00000498124.1,
ENST00000497750.1,
ENST00000579122.1,
ENST00000494262.5,
ENST00000579755.2,
ENST00000530628.2,
ENST00000498628.6,
ENST00000578845.2,
ENST00000304494.10,
ENST00000479692.2 )
CDKN2A p.Gly101Arg (p.G101R) ( ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5 )
CDKN2A p.Gly101Trp (p.G101W) ( ENST00000304494.10, ENST00000498628.6, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000530628.2 )
CDKN2A p.Gly101Arg (p.G101R) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.
- Pubmed
- 17397031
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.284044374341104
- Year of publication
- 2007
Drugs