NM_021942.6:c.2938G>A

HGVS Expressions

  • NG_033102.1:g.47517G>A
  • NM_021942.6:c.2938G>A
  • NP_068761.4:p.Gly980Arg
  • NC_000004.12:g.183701783G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

60510

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615356.1United Arab Emirates2PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 18Al-Shamsi et al. 2016
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