Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 p.? (p.?)
(
ENST00000490576.2,
ENST00000494864.1,
ENST00000610745.5,
ENST00000614273.1,
ENST00000714520.1 )
CYP1B1 p.? (p.?) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- primary congenital glaucoma
- Source Database
- ClinVar
- Description
- NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) AND Primary congenital glaucoma
- ClinVar Allele ID
- 22775
- ClinVar RefSeq Alternation Syntax
- NM_000104.4:c.2T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-02-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003155022
- ClinVar Disease
- Primary congenital glaucoma
- Observed Origin Sample
- germline
Drugs