Variant (rsID / SNP)

rs104894637

rs104894637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,190,883. Clinical significance in the table: Pathogenic.

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Reference-table entries

SGSHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:78190883
Cytoband: 17q25.3
HGVS: NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
Allele change: Missense_S66L

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-A|Sanfilippo syndrome|Mucopolysaccharidosis

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.