Variant (rsID / SNP)

rs137853166

rs137853166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STS. Clinical significance in the table: Pathogenic.

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Reference-table entries

STSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.31
HGVS: NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr)
Allele change: Missense_C453Y

Associated conditions / phenotypes

X-linked ichthyosis with steryl-sulfatase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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