NM_020166.5:c.89+2_89+34del

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HGVS Expressions

  • NG_008100.1:g.5228_5260del
  • NM_020166.5:c.89+2_89+34del
  • NP_064551.3:p.?
  • NC_000003.12:g.183099322_183099354del

Associated Genes

3-Methylcrotonyl-CoA Carboxylase 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210200.G.1United Arab Emirates3-Methylcrotonyl-CoA Carboxylase 1 DeficiencyAl-Shamsi et al. 2014 3 mutations identified in unknown number...
210200.G.2United Arab EmiratesNANALikely Pathogenic3-Methylcrotonyl-CoA Carboxylase 1 DeficiencyAl-Jasmi at al. 2016 Mutations identified in unknown number o...
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Contributors

    Edit History

    • Pratibha Nair: 06.12.2022
    • Rahila Mir: 10.02.2022
    • Asha Deepthi: 22.06.2021
    • Asha Deepthi: 23.06.2020
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    © CAGS 2024. All rights reserved.