TCN2, 2,152-BP DEL AND 4-BP INS

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HGVS Expressions

  • TCN2, 2,152-BP DEL AND 4-BP INS

Associated Genes

Transcobalamin II
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Genomic Location

22q11.2-qter

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Clinvar

99

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
275350.1.1Lebanon2PathogenicTranscobalamin II DeficiencyHäberle et al. 2009
275350.1.2Lebanon1PathogenicHäberle et al. 2009 Mother of 275350.1.1
275350.1.3Lebanon1PathogenicHäberle et al. 2009 Father of 275350.1.1
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Contributors

  • Pratibha Nair: 09.04.2020

Edit History

  • Sami Bizzari: 01.06.2021
  • Pratibha Nair: 09.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.