Variant (rsID / SNP)

rs372893383

rs372893383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALNS. Location: chromosome 16, position 88,880,857. 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: 16:88880857
Cytoband: 16q24.3
HGVS: NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
Allele change: Nonsense_W526X

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-IV-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.