NM_007294.4:c.34C>T

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HGVS Expressions

  • NG_005905.2:g.93921C>T
  • NM_007294.4:c.34C>T
  • NP_009225.1:p.Gln12Ter
  • NC_000017.11:g.43124063G>A

Associated Genes

Breast Cancer 1 Gene
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80357134

Clinvar

54902

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.65Lebanon1PathogenicBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
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Contributors

  • Asha Deepthi: 12.01.2021

Edit History

  • Sami Bizzari: 12.09.2022
  • Asha Deepthi: 13.01.2021
  • Asha Deepthi: 12.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.