rs62476008

This variant is located in the FEZF1 gene.

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ClinVar annotation

Likely Benign★★★☆

4 submitters2 publications

not provided; Hypogonadotropic hypogonadism 22 with or without anosmia;Hypogonadotropic hypogonadism 7 with or without anosmia

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About FEZF1

This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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