Variant (rsID / SNP)

rs7503034

rs7503034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,184,393. 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: 17:78184393
Cytoband: 17q25.3
HGVS: NM_000199.5(SGSH):c.1367G>A (p.Arg456His)
Allele change: Missense_R456H

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.