NM_000135.4:c.2602-2A>G

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HGVS Expressions

  • NG_011706.1:g.56590A>G
  • NM_000135.4:c.2602-2A>G

Associated Genes

FANCA Gene
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Genomic Location

chr16:89765068

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1555545592

Clinvar

974239

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227650.3Lebanon2PathogenicFanconi Anemia, Complementation Group AFarah et al. 2020
227650.4Lebanon2PathogenicFanconi Anemia, Complementation Group AFarah et al. 2020
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Contributors

  • Pratibha Nair: 21.09.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Pratibha Nair: 21.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.