Variant (rsID / SNP)

rs72549380

rs72549380 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,421. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP1B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 2:38298421
Cytoband: 2p22.2
HGVS: NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)

Associated conditions / phenotypes

Congenital glaucoma|Glaucoma 3A|Anterior segment dysgenesis 6

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.