Variant (rsID / SNP)
rs104894639
rs104894639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,184,421. 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
- 17:78184421
- Cytoband
- 17q25.3
- HGVS
- NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
- Allele change
- Missense_E447K
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-III-A|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.