HGVS Expressions

  • NG_042074.1:g.71175del
  • NM_014875.3:c.4475del
  • NP_055690.1:p.Asp1492ValfsTer13
  • NC_000001.11:g.200554560del

Associated Genes

Kinesin Family Member 14
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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
616258.1United Arab Emirates2Likely PathogenicMeckel Syndrome 12Saleh et al. 2021
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