Variant (rsID / SNP)
rs749073455
rs749073455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,152. Clinical significance in the table: Pathogenic.
Reference-table entries
CYP1B1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 2:38298152
- Cytoband
- 2p22.2
- HGVS
- NM_000104.4(CYP1B1):c.1345del (p.Asp449fs)
Associated conditions / phenotypes
Congenital glaucoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.