Variant (rsID / SNP)

rs145231211

rs145231211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDS. Clinical significance in the table: Benign.

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Reference-table entries

IDSBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000202.8(IDS):c.467C>A (p.Pro156Gln)
Allele change: Missense_P66Q

Associated conditions / phenotypes

History of neurodevelopmental disorder|Mucopolysaccharidosis, MPS-II|Mucopolysaccharidosis, MPS-III-A

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.