Variant (rsID / SNP)

rs80358194

rs80358194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXE3. Location: chromosome 1, position 47,882,707. Clinical significance in the table: Pathogenic.

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Reference-table entries

FOXE3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:47882707
Cytoband: 1p33
HGVS: NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter)
Allele change: Silent

Associated conditions / phenotypes

Congenital primary aphakia|Anterior segment 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.