rs193303104

This is a variant in the NOBOX gene that changes a valine to an leucine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Premature ovarian failure 5 (POF5)

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About NOBOX

This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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