NM_000465.4:c.1075_1095del

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  2. NM_000465.4:c.1075_1095del

HGVS Expressions

  • NG_012047.2:g.33906_33926del
  • NM_000465.4:c.1075_1095del
  • NP_000456.2:p.Leu359_Pro365del

Associated Genes

BRCA1-Associated Ring Domain 1
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Genomic Location

chr2:214780783-214780803

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

dbSNP

28997575

Clinvar

140795

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.34LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B28' from family 35 in the publ...
114480.50LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B46' from family 23 in the publ...
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Contributors

  • Asha Deepthi: 29.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Sayeeda Hana: 05.10.2020
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 29.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.