Variant (rsID / SNP)

rs137853167

rs137853167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STS. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

STSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.31
HGVS: NM_001320752.2(STS):c.1007C>T (p.Ser336Leu)
Allele change: Missense_S348L

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.