Annotation Detail
Information
- Associated Genes
- FOXP2
- Associated Variants
-
FOXP2 p.Arg578His (p.R578H)
(
ENST00000350908.9,
ENST00000393494.6,
ENST00000393498.6,
ENST00000403559.9,
ENST00000408937.7,
ENST00000634411.1,
ENST00000635534.1,
ENST00000635638.1,
ENST00000703612.1,
ENST00000703613.1,
ENST00000703614.1,
ENST00000703616.1 )
FOXP2 p.Arg578His (p.R578H) ( ENST00000350908.9, ENST00000393494.6, ENST00000393498.6, ENST00000403559.9, ENST00000408937.7, ENST00000634411.1, ENST00000635534.1, ENST00000635638.1, ENST00000703612.1, ENST00000703613.1, ENST00000703614.1, ENST00000703616.1 ) - Associated Disease
- Speech and language disorder
- Source Database
- DisGeNET
- Description
- A point mutation in the forkhead domain of FOXP2 (R553H) is responsible for a severe speech and language disorder, while a series of missense mutations distributed over the forkhead domain of FOXP3 cause a fatal disorder called IPEX, characterized by immune dysregulation, polyendocrinopathy, and enteropathy.
- Pubmed
- 14997560
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00760037241824849
- Year of publication
- 2004
Drugs