Variant (rsID / SNP)

rs118204443

rs118204443 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALNS. Location: chromosome 16, position 88,898,507. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GALNSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:88898507
Cytoband: 16q24.3
HGVS: NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
Allele change: Missense_G307C

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-IV-A|Morquio syndrome

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.