NM_000135.4:c.4261-19_4261-12del

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HGVS Expressions

  • NG_011706.1:g.82931_82938del
  • NM_000135.4:c.4261-19_4261-12del

Associated Genes

FANCA Gene
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Genomic Location

chr16:89738720-89738727

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1567591276

Clinvar

974173

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227650.2Lebanon1PathogenicFanconi Anemia, Complementation Group AFarah et al. 2020
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Contributors

  • Pratibha Nair: 21.09.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 21.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.