NM_022132.5:c.735dup

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HGVS Expressions

  • NG_008882.1:g.44463dup
  • NM_022132.5:c.735dup
  • NP_071415.1:p.Val247GlyfsTer2
  • NC_000005.10:g.71626750dup

Associated Genes

3-Methylcrotonyl-CoA Carboxylase 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Duplication

dbSNP

770769655

Clinvar

582906

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210210.2United Arab Emirates2Pathogenic3-Methylcrotonyl-CoA Carboxylase 2 DeficiencyAl-Shamsi et al. 2014
210210.G.1United Arab Emirates4NALikely Pathogenic3-Methylcrotonyl-CoA Carboxylase 2 DeficiencyAl-Jasmi at al. 2016 Two patients from two separate tribes
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Contributors

  • Asha Deepthi: 22.06.2021

Edit History

  • Sayeeda Hana: 23.09.2021
  • Asha Deepthi: 22.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.