Variant (rsID / SNP)

rs61750361

rs61750361 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXL2. Location: chromosome 3, position 138,665,064. Clinical significance in the table: Benign.

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Reference-table entries

FOXL2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:138665064
Cytoband: 3q22.3
HGVS: NM_023067.4(FOXL2):c.501C>T (p.Phe167=)
Allele change: Synonymous_F167F

Associated conditions / phenotypes

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.