NM_000059.4:c.6322C>T

HGVS Expressions

  • NG_012772.3:g.30198C>T
  • NM_000059.4:c.6322C>T
  • NP_000050.3:p.Arg2108Cys

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32340677

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Benign, Uncertain Significance

Variant Type

Substitution

Clinvar

41559

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.15LebanonBenignBreast CancerJalkh et al, 2012
114480.97Lebanon1.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage III ductal carcinoma
114480.98Lebanon1.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage I ductal carcinoma
114480.99Lebanon1.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage IV ductal carcinoma
114480.100Lebanon1.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
114480.101Lebanon1.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage II lobular carcinoma
114480.102Lebanon1.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
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