NM_024675.4:c.3350+4A>G

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HGVS Expressions

  • NG_007406.1:g.38498A>G
  • NM_024675.4:c.3350+4A>G
  • NP_078951.2:p.?
  • NC_000016.10:g.23607860T>C

Associated Genes

Partner and Localizer of BRCA2
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

180177136

Clinvar

126737

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610832.1Lebanon2PathogenicFanconi Anemia, Complementation group NFarah et al. 2020
610832.2United Arab Emirates2Likely PathogenicFanconi Anemia, Complementation group NSaleh et al. 2021
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Contributors

  • Pratibha Nair: 18.01.2022
  • Pratibha Nair: 21.09.2020

Edit History

  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 18.01.2022
  • Pratibha Nair: 21.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.