NM_001281723.3:c.1270G>C

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HGVS Expressions

  • NG_008019.2:g.48835G>C
  • NM_001281723.3:c.1270G>C
  • NP_001268652.2:p.Asp424His
  • NC_000003.12:g.15645186G>C

Associated Genes

Biotinidase
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Clinvar Clinical Significance

Likely Benign, Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

13078881

Clinvar

1900

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232300.10United Arab Emirates1PathogenicBiotinidase DeficiencySaleh et al. 2021
253260.3United Arab Emirates1Likely PathogenicBiotinidase DeficiencyBen-Rebeh et al. 2012
253260.5United Arab Emirates1PathogenicBiotinidase DeficiencySaleh et al. 2021 Affected brother
253260.6United Arab Emirates1PathogenicBiotinidase DeficiencySaleh et al. 2021 Sibling with hyperactivity
253260.7United Arab Emirates2PathogenicBiotinidase DeficiencyHesemann et al. 2012 Infant with double homozygous BTD varian...
253260.G.2United Arab EmiratesNANALikely PathogenicBiotinidase DeficiencyAl-Shamsi et al. 2014; Al-Jasmi at al. 2016 Mutation (homozygous+compound heterozygo...
253260.G.15United Arab Emirates4PathogenicBiotinidase DeficiencyVarghese et al. 2021 Group of 2 Emirati females
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Contributors

  • Sayeeda Hana: 24.05.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Sayeeda Hana: 07.09.2022
  • Sami Bizzari: 19.07.2022
  • Pratibha Nair: 03.10.2021
  • Asha Deepthi: 04.07.2021
  • Sayeeda Hana: 24.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.