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Variant (rsID / SNP)

rs775078211

HGSNAT

rs775078211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,046,638. 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
8:43046638
Cytoband
8p11.21
HGVS
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)
Allele change
Nonsense_R384X

Associated conditions / phenotypes

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

Public references

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