Variant (rsID / SNP)
rs104894636
rs104894636 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,190,860. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SGSHPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78190860
- Cytoband
- 17q25.3
- HGVS
- NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
- Allele change
- Missense_R74C
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-III-A|Abnormal circulating carbohydrate concentration|Mucopolysaccharidosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.