Variant (rsID / SNP)

rs104893741

rs104893741 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXL2. Location: chromosome 3, position 138,664,910. Clinical significance in the table: Pathogenic.

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Reference-table entries

FOXL2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:138664910
Cytoband: 3q22.3
HGVS: NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter)
Allele change: Nonsense_Q219X

Associated conditions / phenotypes

Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1|Blepharophimosis, ptosis, and epicanthus inversus syndrome

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.