NM_022786.2:c.294+1G>A

HGVS Expressions

  • NG_052022.1:g.14392G>A
  • NM_022786.2:c.294+1G>A
  • NP_073623.1:p.Lys59_Asn98del
  • NC_000001.11:g.230988440G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

224496

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617020.2.1Lebanon2PathogenicDevelopmental And Epileptic Encephalopathy 38Palmer et al. 2016 Maternal grandmother had 2 male infants ...
617020.2.2Lebanon1Palmer et al. 2016 Mother of patient 617020.2.1
617020.2.3Lebanon1Palmer et al. 2016 Father of patient 617020.2.1
617020.3.1Lebanon2PathogenicDevelopmental And Epileptic Encephalopathy 38Davids et al. 2020 Proband
617020.3.2Lebanon2PathogenicDevelopmental And Epileptic Encephalopathy 38Davids et al. 2020 Sister of patient 617020.3.1
617020.3.3Lebanon2PathogenicDevelopmental And Epileptic Encephalopathy 38Davids et al. 2020 Cousin of patient 617020.3.1
617020.3.4Lebanon2PathogenicDevelopmental And Epileptic Encephalopathy 38Davids et al. 2020 Cousin of patient 614020.3.1
617020.3.5Lebanon2PathogenicDevelopmental And Epileptic Encephalopathy 38Davids et al. 2020 Cousin of patient 614020.3.1
617020.3.GLebanon6PathogenicDavids et al. 2020 Six healthy individuals; parents of pati...
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