NM_004238.1:c.3446_3447del

HGVS Expressions

  • NG_053017.1:g.131499_131500del
  • NM_004238.1:c.3446_3447del
  • NP_004229.1:p.Val1148_Ser1149insTer
  • NC_000002.12:g.229796735_229796736del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

446139

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617752.2Saudi Arabia1Likely PathogenicClark-Baraitser SyndromeZhang et al. 2017 Variant is de novo
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