NM_020166.5:c.1441G>T

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HGVS Expressions

  • NG_008100.1:g.67207G>T
  • NM_020166.5:c.1441G>T
  • NP_064551.3:p.Ala481Ser
  • NC_000003.12:g.183037371C>A

Associated Genes

3-Methylcrotonyl-CoA Carboxylase 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210200.G.4SudanNANALikely Pathogenic3-Methylcrotonyl-CoA Carboxylase 1 DeficiencyAl-Jasmi at al. 2016 UAE resident(s) of Sudanese origin. Numb...
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Contributors

  • Asha Deepthi: 22.06.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 22.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.