NM_000059.3:c.9257-1G>A

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HGVS Expressions

  • NG_012772.3:g.84209G>A
  • NM_000059.3:c.9257-1G>A
  • NC_000013.11:g.32394688G>A

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

81002889

Clinvar

52792

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.12LebanonBreast CancerJalkh et al, 2012
114480.84Lebanon10.6PathogenicBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
114480.85Lebanon10.6PathogenicBreast CancerEl Saghir et al. 2015 Patient with stage III ductal carcinoma
114480.86Lebanon10.6PathogenicBreast CancerEl Saghir et al. 2015 Patient with stage I ductal carcinoma
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Contributors

  • Asha Deepthi: 10.06.2020

Edit History

  • Asha Deepthi: 17.01.2021
  • Asha Deepthi: 14.01.2021
  • Asha Deepthi: 11.06.2020
  • Asha Deepthi: 10.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.