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Variant (rsID / SNP)

rs756310864

HGSNAT

rs756310864 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,052,991. 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
8:43052991
Cytoband
8p11.21
HGVS
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
Allele change
Missense_S541L

Associated conditions / phenotypes

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

Public references

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