Variant (rsID / SNP)
rs138504221
rs138504221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,185,927. Clinical significance in the table: Pathogenic.
Reference-table entries
SGSHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78185927
- Cytoband
- 17q25.3
- HGVS
- NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
- Allele change
- Missense_S298P
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-III-A|Sanfilippo syndrome|7 conditions|Mucopolysaccharidosis|Neurodegeneration
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.