Annotation Detail
Information
- Associated Genes
- CYP1B1 LOC128772254
- Associated Variants
-
NM_000104.4(CYP1B1):c.1294C>G (p.Leu432Val) AND Congenital glaucoma
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- Congenital glaucoma
- Source Database
- ClinVar
- Description
- NM_000104.4(CYP1B1):c.1294C>G (p.Leu432Val) AND Congenital glaucoma
- ClinVar Allele ID
- 451010
- ClinVar RefSeq Alternation Syntax
- NM_000104.4:c.1294C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000525533
- ClinVar Disease
- Congenital glaucoma
- Observed Origin Sample
- germline
Drugs