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Variant (rsID / SNP)

rs148542782

CYP1B1

rs148542782 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,329. 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
2:38298329
Cytoband
2p22.2
HGVS
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)
Allele change
Missense_R390C

Associated conditions / phenotypes

Irido-corneo-trabecular dysgenesis|Glaucoma 3A|Primary congenital glaucoma

Public references

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