Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly12Cys (p.G12C)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Gly12Arg (p.G12R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Cys (p.G12C) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Arg (p.G12R) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Senter syndrome
- Source Database
- DisGeNET
- Description
- This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules.
- Pubmed
- 22011219
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.328414698034489
- Year of publication
- 2012
Drugs