Variant (rsID / SNP)

rs1056836

rs1056836 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,203. 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: 2:38298203
Cytoband: 2p22.2
HGVS: NM_000104.4(CYP1B1):c.1294= (p.Leu432=)
Allele change: Missense_V432L

Associated conditions / phenotypes

Anterior segment dysgenesis 6|Congenital glaucoma|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.