Variant (rsID / SNP)

rs104894642

rs104894642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,188,537. 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: 17:78188537
Cytoband: 17q25.3
HGVS: NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)
Allele change: Missense_P128L

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.