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Variant (rsID / SNP)

rs192857413

HGSNAT

rs192857413 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,054,684. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HGSNATConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:43054684
Cytoband
8p11.21
HGVS
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
Allele change
Missense_Y627C

Associated conditions / phenotypes

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

Public references

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