rs137852517

This is a variant in the ANOS1 gene that changes a serine to an leucine.

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ClinVar annotation

Uncertain Significance★☆☆☆
4 submitters2 publications

Hypogonadotropic hypogonadism 1 with or without anosmia (HH1); not specified

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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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