NM_000363.5:c.61C>T

HGVS Expressions

  • NG_032759.1:g.14626C>T
  • NM_000363.5:c.61C>T
  • NP_000354.4:p.Arg21Cys

Associated Genes

Troponin I, Cardiac
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Genomic Location

chr19:55157097

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

12434

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613690.1Lebanon1PathogenicCardiomyopathy, Familial Hypertrophic 7Fahed et al. 2020 Similarly affected father and 2 siblings
613690.G.1Lebanon15PathogenicCardiomyopathy, Familial Hypertrophic 7Fahed et al. 2020 Pedigree with 25 affected members; 15 mo...
613690.G.2Lebanon7PathogenicCardiomyopathy, Familial Hypertrophic 7Fahed et al. 2020 Pedigree with 19 affected members; 7 mol...
613690.G.3Lebanon3PathogenicCardiomyopathy, Familial Hypertrophic 7Fahed et al. 2020 Pedigree with 10 affected members; 3 mol...
613690.G.4Lebanon4PathogenicCardiomyopathy, Familial Hypertrophic 7Fahed et al. 2020 Pedigree with 9 affected members; 4 mole...
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