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Variant (rsID / SNP)

rs9282671

CYP1B1

rs9282671 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,302,291. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CYP1B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:38302291
Cytoband
2p22.2
HGVS
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)
Allele change
Missense_Y81N

Associated conditions / phenotypes

Primary open angle glaucoma|Congenital ocular coloboma|Congenital glaucoma|Glaucoma 3A|Irido-corneo-trabecular dysgenesis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.