Variant (rsID / SNP)

rs113993945

rs113993945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDS. Clinical significance in the table: Pathogenic.

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Reference-table entries

IDSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000202.8(IDS):c.683C>A (p.Pro228Gln)
Allele change: Missense_P138Q

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-II

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.