rs121909660

This is a variant in the FSHR gene that changes a arginine to an cysteine.

ClinVar annotation

Pathogenic
1 submitter1 publication

Ovarian dysgenesis 1 (ODG1)

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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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