Variant (rsID / SNP)

rs104893629

rs104893629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,230. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP1B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:38298230
Cytoband: 2p22.2
HGVS: NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr)
Allele change: Missense_N423Y

Associated conditions / phenotypes

Glaucoma, primary open angle, juvenile-onset|Glaucoma 3A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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