NM_001113378.2:c.2986C>A

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  2. NM_001113378.2:c.2986C>A

HGVS Expressions

  • NG_011736.1:g.62460C>A
  • NM_001113378.2:c.2986C>A
  • NP_001106849.1:p.Leu996Met

Associated Genes

FANCI Gene
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Genomic Location

chr15:89301422

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609053.1Lebanon2PathogenicFanconi Anemia, Complementation Group IFarah et al. 2020
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Contributors

  • Pratibha Nair: 22.09.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 22.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.