NM_007294.4:c.2158G>T

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HGVS Expressions

  • NG_005905.2:g.124611G>T
  • NM_007294.4:c.2158G>T
  • NP_009225.1:p.Glu720Ter
  • NC_000017.11:g.43093373C>A

Associated Genes

Breast Cancer 1 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80356875

Clinvar

37453

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.69Lebanon1PathogenicBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
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Contributors

  • Asha Deepthi: 12.01.2021

Edit History

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