NM_000512.5:c.245C>T

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HGVS Expressions

  • NG_008667.1:g.19996C>T
  • NM_000512.5:c.245C>T
  • NP_000503.1:p.Ser82Leu
  • NC_000016.10:g.88841971G>A

Associated Genes

Galactosamine-6-Sulfate Sulfatase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

371429653

Clinvar

93175

Epidemiology in the Arab World

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Contributors

  • Asha Deepthi: 06.01.2025

Edit History

  • Asha Deepthi: 06.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.