NM_000070.2:c.717del

HGVS Expressions

  • NG_008660.1:g.45910del
  • NM_000070.2:c.717del
  • NP_000061.1:p.Phe239LeufsTer14
  • NC_000015.10:g.42389012del

Associated Genes

Calpain 3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

284807

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253600.3.1Lebanon2PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997
253600.3.2Lebanon2PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997 Brother of patient 253600.3.1
253600.3.3Lebanon2PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997 Nephew of patient 253600.3.1
253600.3.4Lebanon2PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997 Niece of patient 253600.3.1
253600.3.GLebanon1Richard et al. 1997 5 healthy subjects (4 female and 1 male)...
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