Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 p.Glu387Lys (p.E387K)
(
ENST00000490576.2,
ENST00000494864.1,
ENST00000610745.5,
ENST00000614273.1,
ENST00000714520.1 )
CYP1B1 p.Glu387Lys (p.E387K) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- anterior segment dysgenesis 6 Glaucoma 3, primary infantile, B Glaucoma 3A
- Source Database
- ClinVar
- Description
- NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) AND multiple conditions
- ClinVar Allele ID
- 22774
- ClinVar RefSeq Alternation Syntax
- NM_000104.4:c.1159G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002490338
- ClinVar Disease
- Glaucoma 3, primary infantile, B
- ClinVar Disease
- Glaucoma 3A
- ClinVar Disease
- Anterior segment dysgenesis 6
- Observed Origin Sample
- unknown
Drugs