rs2117315224

This variant is located in the STAG3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter2 publications

Non-obstructive azoospermia; Premature ovarian insufficiency

About STAG3

The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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