NM_000135.4:c.3491C>T

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HGVS Expressions

  • NG_011706.1:g.75052C>T
  • NM_000135.4:c.3491C>T
  • NP_000126.2:p.Pro1164Leu

Associated Genes

FANCA Gene
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Genomic Location

chr16:89746606

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

974055

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227650.1Lebanon2PathogenicFanconi Anemia, Complementation Group AFarah et al. 2020
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Contributors

  • Pratibha Nair: 21.09.2020

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 21.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.