NM_032638.5:c.1040C>T

HGVS Expressions

  • NG_029334.1:g.16266C>T
  • NM_032638.5:c.1040C>T
  • NP_116027.2:p.Thr347Ile

Associated Genes

GATA-Binding Protein 2
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Genomic Location

chr3:128481922

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

1058258

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.29LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B23' from family 4 in the publi...
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