Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A MUTATION
CDKN2A MUTATION
CDKN2A p.Ala148Thr (p.A148T) ( ENST00000498628.6, ENST00000578845.2, ENST00000494262.5, ENST00000530628.2, ENST00000498124.1, ENST00000497750.1, ENST00000579122.1, ENST00000304494.10, ENST00000479692.2, ENST00000579755.2 )
CDKN2A p.Ala148Thr (p.A148T) ( ENST00000579122.1, ENST00000579755.2, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3' UTR, and their association with clinical course of melanoma.
- Pubmed
- 17351674
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2007
Drugs