NM_024513.4:c.2714_2715del

HGVS Expressions

  • NG_031955.1:g.34205_34206del
  • NM_024513.4:c.2714_2715del
  • NP_078789.2:p.Thr905SerfsTer2
  • NC_000003.12:g.45966622_45966623del
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610019.3.1Saudi Arabia1PathogenicCataract 18Patel et al. 2017
610019.3.2Saudi Arabia1PathogenicCataract 18Patel et al. 2017 Relative of 610019.3.1
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