NM_000059.4:c.4258G>T

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HGVS Expressions

  • NG_012772.3:g.28134G>T
  • NM_000059.4:c.4258G>T
  • NP_000050.3:p.Asp1420Tyr

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32338613

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

28897727

Clinvar

41549

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.61LebanonLikely PathogenicBreast CancerJalkh et al, 2017 Patient 'III_4' from family 32 in the pu...
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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.