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Variant (rsID / SNP)

rs121908285

HGSNAT

rs121908285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,037,305. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HGSNATPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
8:43037305
Cytoband
8p11.21
HGVS
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
Allele change
Missense_R344C

Associated conditions / phenotypes

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

Public references

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