Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Arg304Gly (p.R304G)
(
ENST00000279146.8,
ENST00000684006.1,
ENST00000683237.1,
ENST00000683856.1,
ENST00000528641.7,
ENST00000684657.1,
ENST00000682659.1 )
AIP p.Arg304Ter (p.R304*) ( ENST00000683237.1, ENST00000684006.1, ENST00000279146.8, ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7 )
AIP p.Arg304Gly (p.R304G) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
AIP p.Arg304Ter (p.R304*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 ) - Associated Disease
- pituitary adenoma
- Source Database
- DisGeNET
- Description
- The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect?
- Pubmed
- 20354355
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0133006517319349
- Year of publication
- 2010
Drugs