rs6166

This is a variant in the FSHR gene that changes a serine to an asparagine.

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ClinVar annotation

Benign★★★☆
6 submitters6 publications

Ovarian dysgenesis 1 (ODG1); Ovarian hyperstimulation syndrome (OHSS); Ovarian response to FSH stimulation; not specified

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About FSHR

The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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