Variant (rsID / SNP)
rs864622771
rs864622771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDS. Clinical significance in the table: Pathogenic.
Reference-table entries
IDSPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_000202.8(IDS):c.1016T>C (p.Leu339Pro)
- Allele change
- Missense_L249P
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.