NM_000059.4:c.3762G>T

HGVS Expressions

  • NG_012772.3:g.27638G>T
  • NM_000059.4:c.3762G>T
  • NP_000050.3:p.Glu1254Asp
  • NC_000013.11:g.32338117G>T

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

234481

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612555.14United Arab EmiratesUncertain SignificanceBreast-Ovarian Cancer, Familial, Susceptibility To, 2Al-Ali et al. 2023
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