Variant (rsID / SNP)
rs778700037
rs778700037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,184,732. Clinical significance in the table: Pathogenic.
Reference-table entries
SGSHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 17:78184732
- Cytoband
- 17q25.3
- HGVS
- NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-III-A|Sanfilippo syndrome|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.