Annotation Detail
Information
- Associated Genes
- CYP1B1 LOC128772254
- Associated Variants
-
CYP1B1 p.Arg469Trp (p.R469W)
(
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 ) - Associated Disease
- primary congenital glaucoma
- Source Database
- ClinVar
- Description
- NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) AND Primary congenital glaucoma
- ClinVar Allele ID
- 22772
- ClinVar RefSeq Alternation Syntax
- NM_000104.4:c.1405C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-02-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003155021
- ClinVar Disease
- Primary congenital glaucoma
- Observed Origin Sample
- germline
Drugs