Variant (rsID / SNP)

rs118204444

rs118204444 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALNS. Location: chromosome 16, position 88,904,111. Clinical significance in the table: Pathogenic.

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Reference-table entries

GALNSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:88904111
Cytoband: 16q24.3
HGVS: NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)
Allele change: Missense_S168F

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.