NM_000135.4:c.190-1G>C

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HGVS Expressions

  • NG_011706.1:g.7044G>C
  • NM_000135.4:c.190-1G>C
  • NP_000126.2:p.?
  • NC_000016.10:g.89814614C>G

Associated Genes

FANCA Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

765277254

Clinvar

973981

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227650.7Lebanon2PathogenicFanconi Anemia, Complementation Group AFarah et al. 2020
227650.8Lebanon2PathogenicFanconi Anemia, Complementation Group AFarah et al. 2020
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Contributors

  • Pratibha Nair: 22.09.2020

Edit History

  • Pratibha Nair: 09.11.2022
  • Pratibha Nair: 22.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.