NM_005732.4:c.379G>A

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  2. NM_005732.4:c.379G>A

HGVS Expressions

  • NG_021151.2:g.27354G>A
  • NM_005732.4:c.379G>A
  • NP_005723.2:p.Val127Ile

Associated Genes

RAD50 Double-Strand Break Repair Protein
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Genomic Location

chr5:132579330

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

28903086

Clinvar

128023

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.41LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B37' from family 14 in the publ...
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Contributors

  • Asha Deepthi: 22.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 22.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.