NM_000070.3:c.956C>T

HGVS Expressions

  • NG_008660.1:g.49547C>T
  • NM_000070.3:c.956C>T
  • NP_000061.1:p.Pro319Leu

Associated Genes

Calpain 3
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Genomic Location

chr15:42392649

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

17617

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253600.1Lebanon1PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Jalkh et al. 2019
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.
253600.2.5Lebanon1PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1Richard et al. 1997 Second cousin of patient 253600.2.1.
253600.2.G.1Lebanon2Richard et al. 1997 Healthy subjects related to patients wit...
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