Variant (rsID / SNP)
rs28936700
rs28936700 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,302,350. Clinical significance in the table: Pathogenic.
Reference-table entries
CYP1B1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:38302350
- Cytoband
- 2p22.2
- HGVS
- NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)
- Allele change
- Missense_G61E
Associated conditions / phenotypes
Glaucoma 3A|Anterior segment dysgenesis 6|Glaucoma 3, primary infantile, B|Glaucoma 3A|Congenital glaucoma|Anterior segment dysgenesis 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.