Annotation Detail
Information
- Associated Genes
- CDKN2A
- 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
- We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occurrence and penetrance of melanoma are low and primary susceptibility is characterized by prevalence of the CDKN2A c.301G>T [p.G101W] founder mutation.
- Pubmed
- 15221796
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2004
Drugs