NM_007294.4:c.131G>T

HGVS Expressions

  • NG_005905.2:g.102255G>T
  • NM_007294.4:c.131G>T
  • NP_009225.1:p.Cys44Phe

Associated Genes

Breast Cancer 1 Gene
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Genomic Location

chr17:43115729

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

54200

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.40LebanonPathogenicBreast CancerJalkh et al, 2017 Patient 'B36' from family 13 in the publ...
114480.59LebanonPathogenicBreast CancerJalkh et al, 2017 Patient 'D7' from family 30 in the publi...
114480.66Lebanon1PathogenicBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
114480.67Lebanon1PathogenicBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
114480.G.1.1LebanonPathogenicBreast CancerJalkh et al, 2012 2 unrelated patients with breast cancer
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