NM_052845.4:c.197-1G>T

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HGVS Expressions

  • NG_007096.1:g.9634G>T
  • NM_052845.4:c.197-1G>T
  • NP_443077.1:p.?
  • NC_000012.12:g.109568864C>A

Associated Genes

Metabolism of Cobalamin Associated B
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

763935916

Clinvar

219008

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251110.1United Arab Emirates2PathogenicMethylmalonic Aciduria, cblB TypeAl-Shamsi et al. 2014; Saleh et al. 2021
251110.2United Arab Emirates2Likely PathogenicMethylmalonic Aciduria, cblB TypeAl-Jasmi at al. 2016
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Contributors

  • Sayeeda Hana: 02.09.2020

Edit History

  • Asha Deepthi: 07.12.2022
  • Asha Deepthi: 23.06.2021
  • Sayeeda Hana: 02.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.