Variant (rsID / SNP)

rs72549382

rs72549382 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,301,574. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CYP1B1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:38301574
Cytoband: 2p22.2
HGVS: NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu)
Allele change: Missense_V320L

Associated conditions / phenotypes

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.