NM_003159.3:c.229_232del

HGVS Expressions

  • NG_008475.1:g.154829GAAG[1]
  • NM_003159.3:c.229_232del
  • NP_003150.1:p.Glu77HisfsTer35
  • NC_000023.11:g.18575433GAAG[1]
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

Clinvar

143799

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300672.2United Arab Emirates1Likely PathogenicEpileptic Encephalopathy, Early Infantile, 2Saleh et al. 2021 de novo mutation
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