Variant (rsID / SNP)

rs104894862

rs104894862 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.

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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.1464G>T (p.Met488Ile)
Allele change: Missense_M398I

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.