Variant (rsID / SNP)

rs121908286

rs121908286 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,052,825. Clinical significance in the table: Pathogenic.

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Reference-table entries

HGSNATPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:43052825
Cytoband: 8p11.21
HGVS: NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)
Allele change: Missense_S518F

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Mucopolysaccharidosis, MPS-III-C

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.