NM_002052.4:c.648G>A

HGVS Expressions

  • NM_002052.4:c.648G>A
  • NP_002043.2:p.Glu216=
  • NC_000008.11:g.11748950G>A

Associated Genes

GATA-Binding Protein 4
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
187500.1.1Lebanon1PathogenicTetralogy of FallotNemer et al, 2006
187500.1.2 Lebanon1PathogenicTetralogy of FallotNemer et al, 2006
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