NM_001256269.1:c.242G>A

HGVS Expressions

  • NG_032055.1:g.12932G>A
  • NM_001256269.1:c.242G>A
  • NP_001243198.1:p.Arg81Gln
  • NC_000016.10:g.29798644G>A

Associated Genes

Kinesin Family Member 22
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

30335

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603546.1Lebanon1PathogenicSpondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2Boyden et al. 2011 de novo mutation
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