NM_004387.4:c.809G>A

HGVS Expressions

  • NG_013340.1:g.7578G>A
  • NM_004387.4:c.809G>A
  • NP_004378.1:p.Cys270Tyr
  • NC_000005.10:g.173232735C>T

Associated Genes

NK2 Homeobox 5
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

156161

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
108900.4.1Lebanon1Likely BenignAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015
108900.4.2Lebanon1Likely BenignAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects Abou Hassan et al, 2015 Sibling of 108900.4.1
108900.4.3Lebanon1Likely BenignAbou Hassan et al, 2015 Unaffected mother of 108900.4.1
108900.4.4Lebanon1Likely BenignAbou Hassan et al, 2015 Unaffected uncle of 108900.4.1
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