NM_015506.3:c.271dup

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HGVS Expressions

  • NG_013378.1:g.12362dup
  • NM_015506.3:c.271dup
  • NP_056321.2:p.Arg91LysfsTer14
  • NC_000001.11:g.45507545dup

Associated Genes

Metabolism of Cobalamin Associated C
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Duplication

dbSNP

398124292

Clinvar

1421

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277400.1Lebanon2PathogenicMethylmalonic Aciduria and Homocystinuria, cblC TypeNair et al. 2018
277400.2United Arab Emirates2PathogenicMethylmalonic Aciduria and Homocystinuria, cblC TypeAl-Shamsi et al. 2014; Saleh et al. 2021
277400.3United Arab Emirates2Likely PathogenicMethylmalonic Aciduria and Homocystinuria, cblC TypeAl-Jasmi at al. 2016
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Contributors

  • Pratibha Nair: 26.04.2020

Edit History

  • Asha Deepthi: 07.12.2022
  • Asha Deepthi: 23.06.2021
  • Pratibha Nair: 01.09.2020
  • Pratibha Nair: 26.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.