Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 p.Arg368His (p.R368H)
(
ENST00000490576.2,
ENST00000494864.1,
ENST00000610745.5,
ENST00000614273.1,
ENST00000714520.1 )
CYP1B1 p.Arg368His (p.R368H) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- Glaucoma, early-onset, digenic
- Source Database
- ClinVar
- Description
- NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) AND Glaucoma, early-onset, digenic
- ClinVar Allele ID
- 22778
- ClinVar RefSeq Alternation Syntax
- NM_000104.4:c.1103G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008178
- ClinVar Disease
- Glaucoma, early-onset, digenic
- Observed Origin Sample
- germline
- Pubmed
- 19643970
- Pubmed
- 11774072
- Pubmed
- 21081970
- Pubmed
- 27535533
- Pubmed
- 10655546
Drugs