Variant (rsID / SNP)
rs1056837
rs1056837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,150. Clinical significance in the table: Benign.
Reference-table entries
CYP1B1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:38298150
- Cytoband
- 2p22.2
- HGVS
- NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=)
- Allele change
- Synonymous_D449D
Associated conditions / phenotypes
Glaucoma 3A|Irido-corneo-trabecular dysgenesis|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.