Variant (rsID / SNP)

rs483352895

rs483352895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,016,611. Clinical significance in the table: Pathogenic.

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Reference-table entries

HGSNATPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 8:43016611
Cytoband: 8p11.21
HGVS: NM_152419.3(HGSNAT):c.525dup (p.Val176fs)

Associated conditions / phenotypes

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.