NM_000512.5:c.346G>A

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HGVS Expressions

  • NG_008667.1:g.20899G>A
  • NM_000512.5:c.346G>A
  • NP_000503.1:p.Gly116Ser
  • NC_000016.10:g.88841068C>T

Associated Genes

Galactosamine-6-Sulfate Sulfatase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1444754604

Clinvar

928751

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253000.2.1Saudi Arabia2NAPathogenicMucopolysaccharidosis Type IVAMaddirevula et al. 2018
253000.2.2Saudi Arabia2NAPathogenicMucopolysaccharidosis Type IVAMaddirevula et al. 2018 Relative of 253000.2.1
253000.3Saudi Arabia2NAPathogenicMucopolysaccharidosis Type IVAMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 29.11.2021

Edit History

  • Asha Deepthi: 29.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.