Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 MUTATION
CYP1B1 MUTATION
CYP1B1 p.Arg469Trp (p.R469W) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Arg390Cys (p.R390C) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Arg390Ser (p.R390S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Arg368His (p.R368H) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Gly61Glu (p.G61E) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Arg469Trp (p.R469W) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Arg390Cys (p.R390C) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Arg390Ser (p.R390S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Arg368His (p.R368H) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Gly61Glu (p.G61E) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- GLAUCOMA 3, PRIMARY CONGENITAL, A
- Source Database
- DisGeNET
- Description
- Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
- Pubmed
- 10655546
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- 2000
Drugs