NM_001281723.3:c.908A>G

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HGVS Expressions

  • NG_008019.2:g.48473A>G
  • NM_001281723.3:c.908A>G
  • NP_001357587.1:p.His303Arg
  • NC_000003.12:g.15644824A>G

Associated Genes

Biotinidase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397507176

Clinvar

38278

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.G.4United Arab EmiratesNANALikely PathogenicBiotinidase DeficiencyAl-Shamsi et al. 2014; Al-Jasmi at al. 2016 Compound heterozygous mutation identifie...
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Contributors

  • Asha Deepthi: 04.07.2021

Edit History

  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 21.09.2022
  • Asha Deepthi: 04.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.