NM_013296.4:c.1055C>A

HGVS Expressions

  • NG_028108.2:g.32878C>A
  • NM_013296.4:c.1055C>A
  • NP_037428.3:p.Ser352*
  • NC_000001.11:g.108903227C>A
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CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604213.2.1Yemen2PathogenicChudley-McCullough SyndromeHamzeh et al. 2016
604213.2.2Yemen2PathogenicChudley-McCullough SyndromeHamzeh et al. 2016 Brother of 604213.2.1
604213.3United Arab Emirates2Likely PathogenicChudley-McCullough SyndromeTlili et al. 2024
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