NM_000059.4:c.5576_5579del

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HGVS Expressions

  • NG_012772.3:g.29452_29455del
  • NM_000059.4:c.5576_5579del
  • NP_000050.3:p.Ile1859fs

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32339931-32339934

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

80359520

Clinvar

37975

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.11LebanonPathogenicBreast CancerJalkh et al, 2012
114480.83Lebanon10.2PathogenicBreast CancerEl Saghir et al. 2015
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Contributors

  • Asha Deepthi: 10.06.2020

Edit History

  • Asha Deepthi: 17.01.2021
  • Sayeeda Hana: 04.10.2020
  • Asha Deepthi: 11.06.2020
  • Asha Deepthi: 10.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.