Variant (rsID / SNP)

rs1800440

rs1800440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,139. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CYP1B1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:38298139
Cytoband: 2p22.2
HGVS: NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)
Allele change: Missense_N453S

Associated conditions / phenotypes

Glaucoma 3A|Congenital glaucoma|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.