NM_005431.2:c.643C>T

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HGVS Expressions

  • NG_027988.2:g.32324C>T
  • NM_005431.2:c.643C>T
  • NP_005422.1:p.Arg215Ter
  • NC_000007.14:g.152648842G>A

Associated Genes

X-Ray Repair Cross Complementing 2
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

143153871

Clinvar

30063

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617247.1Saudi Arabia2PathogenicFanconi Anemia, Complementation Group UMaddirevula et al. 2019 Similarly affected sibling
617247.2Saudi Arabia2PathogenicFanconi Anemia, Complementation Group UShamseldin et al. 2012
617247.3Saudi Arabia2Likely PathogenicFanconi Anemia, Complementation Group UAlhathal et al. 2020 Limited evidence of Fanconi Anemia
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Contributors

  • Pratibha Nair: 17.10.2022

Edit History

  • Pratibha Nair: 07.03.2023
  • Pratibha Nair: 17.10.2022
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.