NM_000046.5:c.753C>G

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HGVS Expressions

  • NG_007089.1:g.36095C>G
  • NM_000046.5:c.753C>G
  • NP_000037.2:p.Tyr251Ter
  • NC_000005.10:g.78955440G>C

Associated Genes

Arylsulfatase B
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

765711776

Clinvar

488822

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253200.2Saudi Arabia2NAPathogenicMucopolysaccharidosis Type VIMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 25.10.2021

Edit History

  • Asha Deepthi: 25.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.