NM_007294.4:c.536A>G

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HGVS Expressions

  • NG_005905.2:g.118198A>G
  • NM_007294.4:c.536A>G
  • NP_009225.1:p.Tyr179Cys

Associated Genes

Breast Cancer 1 Gene
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Genomic Location

chr17:43099786

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign, Pathogenic

Variant Type

Substitution

dbSNP

56187033

Clinvar

37661

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.27LebanonPathogenicBreast CancerJalkh et al, 2017 Patient 'B21' from family 2 in the publi...
114480.G.1.2LebanonBenignBreast CancerJalkh et al, 2012 2 unrelated patients with breast cancer
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Contributors

  • Asha Deepthi: 03.06.2020

Edit History

  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 07.06.2020
  • Asha Deepthi: 03.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.