Variant (rsID / SNP)

rs104894640

rs104894640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,184,655. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SGSHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:78184655
Cytoband: 17q25.3
HGVS: NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
Allele change: Missense_E369K

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-A

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.