NM_000512.5:c.319G>A

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HGVS Expressions

  • NG_008667.1:g.20070G>A
  • NM_000512.5:c.319G>A
  • NP_000503.1:p.Ala107Thr
  • NC_000016.10:g.88841897C>T

Associated Genes

Galactosamine-6-Sulfate Sulfatase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

763184657

Clinvar

1048185

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253000.G.1United Arab Emirates4PathogenicMucopolysaccharidosis Type IVAAl-Jasmi et al. 2013 2 Emirati siblings
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Contributors

  • Sayeeda Hana: 25.09.2021

Edit History

  • Sami Bizzari: 03.06.2022
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 26.09.2021
  • Sayeeda Hana: 25.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.