NM_001370658.1:c.500del

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HGVS Expressions

  • NG_008019.2:g.48065del
  • NM_001370658.1:c.500del
  • NP_001357587.1:p.Pro167fs
  • NC_000003.12:g.15644416del

Associated Genes

Biotinidase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1325381

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.9United Arab Emirates2PathogenicBiotinidase DeficiencySaleh et al. 2021; Elsayed O and Al-Shamsi A. 2022
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Contributors

  • Pratibha Nair: 03.10.2021

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 22.12.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 03.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.