NM_007294.4:c.5030_5033del

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HGVS Expressions

  • NG_005905.2:g.150332_150335del
  • NM_007294.4:c.5030_5033del
  • NP_009225.1:p.Thr1677fs

Associated Genes

Breast Cancer 1 Gene
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Genomic Location

chr17:43067652-43067655

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic, Uncertain Significance

Variant Type

Deletion

dbSNP

80357580

Clinvar

37623

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.46LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B42' from family 19 in the publ...
114480.71Lebanon1PathogenicBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
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Contributors

  • Asha Deepthi: 30.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 13.01.2021
  • Sayeeda Hana: 05.10.2020
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 30.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.