NM_005732.4:c.280A>C

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  2. NM_005732.4:c.280A>C

HGVS Expressions

  • NG_021151.2:g.23867A>C
  • NM_005732.4:c.280A>C
  • NP_005723.2:p.Ile94Leu

Associated Genes

RAD50 Double-Strand Break Repair Protein
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Genomic Location

chr5:132575843

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

28903085

Clinvar

128012

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.39LebanonLikely PathogenicBreast CancerJalkh et al, 2017 Patient 'B35' from family 12 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.