Annotation Detail
Information
- Associated Genes
- FOXP2
- Associated Variants
-
FOXP2 p.Arg353Ter (p.R353*)
(
ENST00000350908.9,
ENST00000360232.8,
ENST00000378237.7,
ENST00000390668.3,
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 )
FOXP2 p.Arg353Ter (p.R353*) ( ENST00000350908.9, ENST00000360232.8, ENST00000378237.7, ENST00000390668.3, 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
- Apraxia, Developmental Verbal
- Source Database
- DisGeNET
- Description
- This inhibition is diminished by two distinct FOXP2 point mutations, R553H and R328X, which were previously found in families affected by developmental verbal dyspraxia.
- Pubmed
- 22434823
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.483800186209124
- Year of publication
- 2012
Drugs