NM_000059.4:c.6513G>C

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HGVS Expressions

  • NG_012772.3:g.30389G>C
  • NM_000059.4:c.6513G>C
  • NP_000050.3:p.Val2171=

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32340868

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

206076

Clinvar

132780

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.G.1.49LebanonBenignBreast CancerJalkh et al, 2012 38 unrelated patients with breast cancer
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Contributors

  • Asha Deepthi: 10.06.2020

Edit History

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