Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 c.*975A>G
(
ENST00000490576.2,
ENST00000610745.5,
ENST00000714520.1 )
CYP1B1 c.*975A>G ( ENST00000490576.2, ENST00000610745.5, ENST00000714520.1 ) - Associated Disease
- Irido-corneo-trabecular dysgenesis
- Source Database
- ClinVar
- Description
- NM_000104.4(CYP1B1):c.*975A>G AND Irido-corneo-trabecular dysgenesis
- ClinVar Allele ID
- 286953
- ClinVar RefSeq Alternation Syntax
- NM_000104.4:c.*975A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000354409
- ClinVar Disease
- Irido-corneo-trabecular dysgenesis
- Observed Origin Sample
- germline
Drugs