Variant (rsID / SNP)

rs56010818

rs56010818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,298,328. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CYP1B1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:38298328
Cytoband: 2p22.2
HGVS: NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)
Allele change: Missense_R390H

Associated conditions / phenotypes

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.