Variant (rsID / SNP)

rs864622774

rs864622774 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDS. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IDSConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000202.8(IDS):c.469C>T (p.Pro157Ser)
Allele change: Missense_P67S

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.