rs199538589

This is a variant in the HS6ST1 gene that changes a arginine to an tryptophan.

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ClinVar annotation

Risk Factor★★★☆

9 submitters7 publications

HS6ST1-related disorder; HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; Hypogonadotropic hypogonadism 15 with or without anosmia (HH15); Hypogonadotropic hypogonadism 7 with or without anosmia (HH7); not specified

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About HS6ST1

The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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