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Variant (rsID / SNP)

rs199538589

HS6ST1

rs199538589 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HS6ST1. Location: chromosome 2, position 129,025,828. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HS6ST1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:129025828
Cytoband
2q14.3
HGVS
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
Allele change
Missense_R382W

Associated conditions / phenotypes

HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO|Hypogonadotropic hypogonadism 7 with or without anosmia|Hypogonadotropic hypogonadism 15 with or without anosmia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.