NM_004387.4:c.721_728del

HGVS Expressions

  • NG_013340.1:g.7490_7497del
  • NM_004387.4:c.721_728del
  • NP_004378.1:p.Tyr241fs

Associated Genes

NK2 Homeobox 5
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Genomic Location

chr5:173232816-173232823

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

156160

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
108900.1.01Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015
108900.1.02Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Brother of 108900.1.01
108900.1.03Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Nephew of 108900.1.01
108900.1.04Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Nephew of 108900.1.01
108900.1.05Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Niece of 108900.1.01
108900.1.06Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Niece of 108900.1.01
108900.1.07Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Niece of 108900.1.01
108900.1.08Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Nephew of 108900.1.01
108900.1.09Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Great-niece of 108900.1.01
108900.1.10Lebanon1PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Great-niece of 108900.1.01
108900.1.11Lebanon1PathogenicAbou Hassan et al, 2015 Unaffected great-nephew of 108900.1.01
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