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Variant (rsID / SNP)

rs57865060

CYP1B1

rs57865060 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,301,847. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.

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Reference-table entries

CYP1B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity; other
Variant type
single nucleotide variant
Chromosome / position
2:38301847
Cytoband
2p22.2
HGVS
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
Allele change
Missense_E229K

Associated conditions / phenotypes

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

Public references

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