NM_001281723.3:c.1147T>G

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HGVS Expressions

  • NG_008019.2:g.48712T>G
  • NM_001281723.3:c.1147T>G
  • NP_001357587.1:p.Phe383Val
  • NC_000003.12:g.15645063T>G

Associated Genes

Biotinidase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

104893686

Clinvar

143949

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.5United Arab Emirates1PathogenicBiotinidase DeficiencySaleh et al. 2021 Affected brother
253260.7United Arab Emirates2PathogenicBiotinidase DeficiencyHesemann et al. 2012 Infant with double homozygous BTD varian...
253260.G.5United 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: 12.01.2023
  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 21.09.2022
  • Sami Bizzari: 19.07.2022
  • Pratibha Nair: 03.10.2021
  • Asha Deepthi: 04.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.