Variant (rsID / SNP)
rs79204362
rs79204362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,394. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CYP1B1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:38298394
- Cytoband
- 2p22.2
- HGVS
- NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
- Allele change
- Missense_R368H
Associated conditions / phenotypes
Glaucoma, early-onset, digenic|Glaucoma 3A|Congenital ocular coloboma|Irido-corneo-trabecular dysgenesis|Glaucoma 3A|CYP1B1-Related Disorders|Congenital glaucoma|Myopathy, centronuclear, 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.