NM_001281723.3:c.197T>C

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HGVS Expressions

  • NG_008019.2:g.39285T>C
  • NM_001281723.3:c.197T>C
  • NP_001268653.2:p.Met66Thr
  • NC_000003.12:g.15635636T>C

Associated Genes

Biotinidase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587783002

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.G.8United Arab EmiratesNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 Compound heterozygous mutation identifie...
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Contributors

  • Asha Deepthi: 04.07.2021

Edit History

  • Sami Bizzari: 08.12.2022
  • Pratibha Nair: 21.09.2022
  • Asha Deepthi: 04.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.