NM_001281723.3:c.130G>A

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  2. NM_001281723.3:c.130G>A

HGVS Expressions

  • NG_008019.1:g.38822G>A
  • NM_001281723.3:c.130G>A
  • NP_001310511.1:p.Glu44Lys

Associated Genes

Biotinidase
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Genomic Location

chr3:15635569

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514340

Clinvar

24980

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253260.1.1Lebanon2PathogenicBiotinidase DeficiencyMikati et al, 2006
253260.1.2Lebanon1PathogenicMikati et al, 2006 Unaffected father of 253260.1.1
253260.1.3Lebanon1PathogenicMikati et al, 2006 Unaffected mother of 253260.1.1
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Contributors

  • Sayeeda Hana: 16.03.2020

Edit History

  • Sayeeda Hana: 16.03.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.