Variant (rsID / SNP)
rs104894863
rs104894863 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDS. Clinical significance in the table: no interpretation for the single variant.
Reference-table entries
IDSOther
- Clinical significance (as recorded)
- no interpretation for the single variant
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_000202.8(IDS):c.1466G>C (p.Gly489Ala)
- Allele change
- Missense_G399A
Associated conditions / phenotypes
Mucopolysaccharidosis, Type Ii
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.