rs28937885

This is a variant in the FOXL2 gene that changes a tyrosine to an asparagine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters2 publications

Blepharophimosis, ptosis, and epicanthus inversus syndrome; Premature ovarian failure 3 (POF3)

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About FOXL2

This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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