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Variant (rsID / SNP)

rs137927658

GALNS

rs137927658 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALNS. Location: chromosome 16, position 88,901,662. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GALNSConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:88901662
Cytoband
16q24.3
HGVS
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
Allele change
Missense_T292M

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-IV-A

Public references

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