NM_172107.4:c.1126del

HGVS Expressions

  • NG_009004.2:g.46279del
  • NM_172107.4:c.1126del
  • NP_742105.1:p.Thr376LeufsTer13
  • NC_000020.11:g.63431364del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

369786

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
121200.1.1United Arab Emirates1Likely PathogenicSeizures, Benign Familial Neonatal, 1Saadeldin et al. 2013 Proband
121200.1.2United Arab Emirates1Likely PathogenicSeizures, Benign Familial Neonatal, 1Saadeldin et al. 2013 Brother of 121200.1.1
121200.1.3United Arab Emirates1Likely PathogenicSeizures, Benign Familial Neonatal, 1Saadeldin et al. 2013 Brother of 121200.1.1
121200.1.4United Arab Emirates1Likely PathogenicSeizures, Benign Familial Neonatal, 1Saadeldin et al. 2013 Father of 121200.1.1
121200.1.5United Arab Emirates1Likely PathogenicSeizures, Benign Familial Neonatal, 1Saadeldin et al. 2013 First cousin of 121200.1.1
121200.1.6United Arab Emirates1Likely PathogenicSeizures, Benign Familial Neonatal, 1Saadeldin et al. 2013 Relative of 121200.1.1
121200.1.7United Arab Emirates1Likely PathogenicSeizures, Benign Familial Neonatal, 1Saadeldin et al. 2013 Relative of 121200.1.1
121200.1.8United Arab Emirates1Likely PathogenicSeizures, Benign Familial Neonatal, 1Saadeldin et al. 2013 Relative of 121200.1.1
121200.1.9United Arab Emirates1Likely PathogenicSeizures, Benign Familial Neonatal, 1Saadeldin et al. 2013 Relative of 121200.1.1
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