NM_001281723.3:c.416G>A

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HGVS Expressions

  • NG_008019.2:g.47981G>A
  • NM_001281723.3:c.416G>A
  • NP_001268652.2:p.Ser139Asn
  • NC_000003.12:g.15644332G>A

Associated Genes

Biotinidase
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

144717999

Clinvar

1236181

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.G.1United Arab EmiratesNANALikely PathogenicBiotinidase DeficiencyAl-Jasmi at al. 2016 Compound heterozygous mutation identifie...
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Contributors

  • Asha Deepthi: 04.07.2021

Edit History

  • Pratibha Nair: 04.01.2023
  • Pratibha Nair: 21.09.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 04.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.