NM_004387.4:c.461A>G

HGVS Expressions

  • NG_013340.1:g.7230A>G
  • NM_004387.4:c.461A>G
  • NP_004378.1:p.Glu154Gly

Associated Genes

NK2 Homeobox 5
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Genomic Location

chr5:173233083

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

156158

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
108900.3.1Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015
108900.3.2Lebanon1PathogenicAbou Hassan et al, 2015 Unaffected daughter of 108900.3.1
108900.3.3Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Son of 108900.3.1
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