Gene entry
SGSH
N-sulfoglucosamine sulfohydrolase
- Chromosome
- 17
- Cytoband
- 17q25.3
- Variants (rsID)
- 30
SGSH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.3). Its official name is “N-sulfoglucosamine sulfohydrolase”. The reference table lists 30 variants (rsID) for this gene.
Clinically classified variants
21 reference-table entries with clinical significance.
- rs34297805Benignsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs4889839Benignsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs58786455Benignsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs62620232Benignsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs7503034Benignsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs9900502Benignsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs766938111Conflicting interpretationssingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs142309764Likely benignsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs104894636Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-A|Abnormal circulating carbohydrate concentration|Mucopolysaccharidosis
- rs104894637Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-A|Sanfilippo syndrome|Mucopolysaccharidosis
- rs104894638Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs104894639Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-A|Inborn genetic diseases
- rs104894640Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs104894641Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs104894642Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-A
- rs138504221Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-A|Sanfilippo syndrome|7 conditions|Mucopolysaccharidosis|Neurodegeneration
- rs143947056Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-A|Inborn genetic diseases
- rs752914124PathogenicDeletionMucopolysaccharidosis, MPS-III-A|7 conditions
- rs770947426PathogenicDeletionMucopolysaccharidosis, MPS-III-A|Mucopolysaccharidosis
- rs777956287PathogenicDeletionSanfilippo syndrome|Mucopolysaccharidosis, MPS-III-A
- rs778700037PathogenicDuplicationMucopolysaccharidosis, MPS-III-A|Sanfilippo syndrome|Inborn genetic diseases
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
