Variant (rsID / SNP)

rs4986888

rs4986888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,169. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CYP1B1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:38298169
Cytoband: 2p22.2
HGVS: NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)
Allele change: Missense_A443G

Associated conditions / phenotypes

Congenital glaucoma|Glaucoma 3A|Irido-corneo-trabecular dysgenesis

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.