NM_000070.2:c.257C>T

HGVS Expressions

  • NG_008660.1:g.16960C>T
  • NM_000070.2:c.257C>T
  • NP_000061.1:p.Ser86Phe
  • NC_000015.10:g.42360062C>T

Associated Genes

Calpain 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

17616

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253600.2.1Lebanon1PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997
253600.2.2Lebanon1PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997 Brother of patient 253600.2.1.
253600.2.3Lebanon2PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997 cousin of patient 253600.2.1.
253600.2.4Lebanon2PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997 cousin of patient 253600.2.1.
253600.2.5Lebanon1PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997 Second cousin of patient 253600.2.1.
253600.2.G.2Lebanon7Richard et al. 1997 7 unaffected relatives of 253600.2 who e...
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