NM_000059.4:c.223G>C

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HGVS Expressions

  • NG_012772.3:g.8753G>C
  • NM_000059.4:c.223G>C
  • NP_000050.3:p.Ala75Pro

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32319232

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

28897701

Clinvar

51258

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.63LebanonLikely PathogenicBreast CancerJalkh et al, 2017 Patient 'D13' from family 34 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.