Annotation Detail
Information
- Associated Genes
- SOX10
- Associated Variants
-
SOX10 p.Gln377Ter (p.Q377*), POLR2F c.293+6597G>A
(
ENST00000407936.5,
ENST00000360880.6,
ENST00000405557.5,
ENST00000698177.1,
ENST00000396884.8 )
SOX10 p.Glu189Ter (p.E189*), POLR2F c.294-8155C>A ( ENST00000405557.5, ENST00000407936.5, ENST00000360880.6, ENST00000396884.8, ENST00000698177.1 )
SOX10 p.Ser135Thr (p.S135T), POLR2F c.294-2773C>G ( ENST00000405557.5, ENST00000407936.5, ENST00000360880.6, ENST00000396884.8, ENST00000698177.1 )
SOX10 p.Gln377Ter (p.Q377*), POLR2F c.293+6597G>A ( ENST00000405557.5, ENST00000407936.5, ENST00000396884.8, ENST00000698177.1, ENST00000360880.6 )
SOX10 p.Glu189Ter (p.E189*), POLR2F c.294-8155C>A ( ENST00000405557.5, ENST00000407936.5, ENST00000360880.6, ENST00000396884.8, ENST00000698177.1 )
SOX10 p.Ser135Thr (p.S135T), POLR2F c.294-2773C>G ( ENST00000405557.5, ENST00000407936.5, ENST00000360880.6, ENST00000396884.8, ENST00000698177.1 ) - Associated Disease
- Megacolon, not Hirschsprung's
- Source Database
- DisGeNET
- Description
- The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T that is associated with Yemenite deaf-blind hypopigmentation syndrome (YDBS), which does not manifest megacolon.
- Pubmed
- 16921166
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2006
Drugs