Variant (rsID / SNP)
rs113993948
rs113993948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDS. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
IDSPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_000202.8(IDS):c.1122C>T (p.Gly374=)
- Allele change
- Synonymous_G284G
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.