NM_001159773.1:c.901_903del

HGVS Expressions

  • NM_001159773.1:c.901_903del
  • NP_001153245.1:p.Arg301del
  • NC_000017.11:g.78993856_78993858del
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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
251450.7Algeria2Likely PathogenicDesbuquois Dysplasia 1Ranza et al. 2017
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