Variant (rsID / SNP)

rs4889839

rs4889839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,188,963. Clinical significance in the table: Benign.

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Reference-table entries

SGSHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:78188963
Cytoband: 17q25.3
HGVS: NM_000199.5(SGSH):c.250-26C>T
Allele change: Silent

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.