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Variant (rsID / SNP)

rs118204437

GALNS

rs118204437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALNS. Location: chromosome 16, position 88,891,261. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GALNSPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:88891261
Cytoband
16q24.3
HGVS
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
Allele change
Missense_R392C

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.