NM_000059.4:c.1151C>T

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HGVS Expressions

  • NG_012772.3:g.22150C>T
  • NM_000059.4:c.1151C>T
  • NP_000050.3:p.Ser384Phe

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32332629

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

41293475

Clinvar

41541

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.40LebanonLikely PathogenicBreast CancerJalkh et al, 2017 Patient 'B36' from family 13 in the publ...
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Contributors

  • Asha Deepthi: 31.08.2020

Edit History

  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 31.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.