Annotation Detail
Information
- Associated Genes
- CYP1B1 LOC128772254
- Associated Variants
-
CYP1B1 p.Pro437Leu (p.P437L)
(
ENST00000490576.2,
ENST00000494864.1,
ENST00000610745.5,
ENST00000614273.1,
ENST00000714520.1 )
CYP1B1 p.Pro437Leu (p.P437L) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 ) - Associated Disease
- anterior segment dysgenesis 6
- Source Database
- ClinVar
- Description
- NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) AND Anterior segment dysgenesis 6
- ClinVar Allele ID
- 1244562
- ClinVar RefSeq Alternation Syntax
- NM_000104.4:c.1310C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003470876
- ClinVar Disease
- Anterior segment dysgenesis 6
- Observed Origin Sample
- unknown
Drugs