HGVS Expressions

  • NG_033030.1:g.54897A>G
  • NM_001271938.2:c.7270-2A>G
  • NP_001258867.1:p.?
  • NC_000019.10:g.42375505A>G
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CTGA Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614976.1Saudi Arabia1NALikely PathogenicCarpenter Syndrome 2Twigg et al. 2012 Patient has a similarly affected older b...
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