NM_000059.4:c.5744C>T

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HGVS Expressions

  • NG_012772.3:g.29620C>T
  • NM_000059.4:c.5744C>T
  • NP_000050.3:p.Thr1915Met

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32340099

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Association, Benign

Variant Type

Substitution

dbSNP

4987117

Clinvar

41556

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.28LebanonAssociationBreast CancerJalkh et al, 2017 Patient 'B22' from family 3 in the publi...
114480.G.1.27LebanonBenignBreast CancerJalkh et al, 2012 2 unrelated patients with breast cancer
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Contributors

  • Asha Deepthi: 10.06.2020

Edit History

  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 11.06.2020
  • Asha Deepthi: 10.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.