NM_007294.4:c.1648A>C

HGVS Expressions

  • NG_005905.2:g.124101A>C
  • NM_007294.4:c.1648A>C
  • NP_009225.1:p.Asn550His

Associated Genes

Breast Cancer 1 Gene
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Genomic Location

chr17:43093883

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

Clinvar

37423

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.G.1.4LebanonBenignBreast CancerJalkh et al, 2012 2 unrelated patients with breast cancer
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