NM_007294.4:c.483_484TG[1]

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  2. NM_007294.4:c.483_484TG[1]

HGVS Expressions

  • NG_005905.2:g.118145_118146TG[1]
  • NM_007294.4:c.483_484TG[1]
  • NP_009225.1:p.Val162fs
  • NC_000017.11:g.43099836_43099837CA[1]

Associated Genes

Breast Cancer 1 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

80357708

Clinvar

55304

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.68Lebanon1PathogenicBreast 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.