NM_021922.3:c.334del

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HGVS Expressions

  • NG_011708.1:g.8472del
  • NM_021922.3:c.334del
  • NP_068741.1:p.Ser112ValfsTer14
  • NC_000006.12:g.35455832del

Associated Genes

FANCE Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1479445348

Clinvar

1322887

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600901.1Lebanon2PathogenicFanconi Anemia, Complementation Group EFarah et al. 2020
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Contributors

  • Pratibha Nair: 21.09.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 21.09.2020
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© CAGS 2024. All rights reserved.