NM_000059.4:c.6550C>G

HGVS Expressions

  • NG_012772.3:g.30426C>G
  • NM_000059.4:c.6550C>G
  • NP_000050.2:p.Gln2184Glu
  • NC_000013.11:g.32340905C>G

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

52126

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.103Lebanon0.2Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
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