NM_000059.4:c.7625C>T

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HGVS Expressions

  • NG_012772.3:g.47270C>T
  • NM_000059.4:c.7625C>T
  • NP_000050.3:p.Thr2542Met

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32357749

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

80358989

Clinvar

96854

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605724.1Lebanon2Likely PathogenicFanconi Anemia, Complementation Group D1Farah et al. 2020
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Contributors

  • Pratibha Nair: 22.09.2020

Edit History

  • Pratibha Nair: 22.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.