Annotation Detail
Information
- Associated Genes
- CYP1B1
- Associated Variants
-
CYP1B1 p.Trp57Ter (p.W57*)
(
ENST00000490576.2,
ENST00000494864.1,
ENST00000610745.5,
ENST00000614273.1,
ENST00000714520.1 )
CYP1B1 p.Trp57Ter (p.W57*) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- anterior segment dysgenesis
- Source Database
- ClinVar
- Description
- NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) AND Anterior segment dysgenesis
- ClinVar Allele ID
- 22776
- ClinVar RefSeq Alternation Syntax
- NM_000104.4:c.171G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-03-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001200036
- ClinVar Disease
- Anterior segment dysgenesis
- Observed Origin Sample
- biparental
Drugs