rs142729431

This variant is located in the ANOS1 gene.

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ClinVar annotation

Benign★☆☆☆

5 submitters1 publication

Hypogonadotropic hypogonadism 1 with or without anosmia; not specified; not provided

About ANOS1

Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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