NM_007294.4:c.5444G>A

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HGVS Expressions

  • NG_005905.2:g.170318G>A
  • NM_007294.4:c.5444G>A
  • NP_009225.1:p.Trp1815Ter
  • NC_000017.11:g.43047666C>T

Associated Genes

Breast Cancer 1 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80356962

Clinvar

55580

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.G.1.7LebanonPathogenicBreast CancerJalkh et al, 2012 2 unrelated patients with breast cancer
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Contributors

  • Asha Deepthi: 03.06.2020

Edit History

  • Sami Bizzari: 12.09.2022
  • Asha Deepthi: 07.06.2020
  • Asha Deepthi: 03.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.