NM_007294.4:c.1224del

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  2. NM_007294.4:c.1224del

HGVS Expressions

  • NG_005905.2:g.123677del
  • NM_007294.4:c.1224del
  • NP_009225.1:p.Val409Ter
  • NC_000017.11:g.43094309del

Associated Genes

Breast Cancer 1 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

879255320

Clinvar

252436

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604370.2EgyptLikely PathogenicBreast-Ovarian Cancer, Familial, Susceptibility to, 1Al-Ali et al. 2023
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Contributors

  • Pratibha Nair: 23.01.2024

Edit History

  • Pratibha Nair: 23.01.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.