NM_001305878.1:c.2378del

HGVS Expressions

  • NG_042093.1:g.114175del
  • NM_001305878.1:c.2378del
  • NP_001292807.1:p.Glu793GlyfsTer17
  • NC_000008.11:g.41942851del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616268.1United Arab Emirates1Likely PathogenicArboleda-Tham SyndromeSaleh et al. 2021 Father and siblings similarly affected
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