NM_000462.3:c.2576_2579del

HGVS Expressions

  • NG_002690.1:g.558278_558281del
  • NM_000462.3:c.2576_2579del
  • NP_000453.2:p.Lys859ArgfsTer4
  • NC_000015.10:g.25339187_25339190del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

160220

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
105830.1United Arab Emirates1PathogenicAngelman SyndromeSaleh et al. 2021 Father and siblings have macrocephaly
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