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NM_000363.5:c.61C>T
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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
dbSNP
267607128
Clinvar
12434
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613690.1
Lebanon
1
Pathogenic
Cardiomyopathy, Familial Hypertrophic 7
Fahed et al. 2020
Similarly affected father and 2 siblings
613690.G.1
Lebanon
15
Pathogenic
Cardiomyopathy, Familial Hypertrophic 7
Fahed et al. 2020
Pedigree with 25 affected members; 15 mo...
613690.G.2
Lebanon
7
Pathogenic
Cardiomyopathy, Familial Hypertrophic 7
Fahed et al. 2020
Pedigree with 19 affected members; 7 mol...
613690.G.3
Lebanon
3
Pathogenic
Cardiomyopathy, Familial Hypertrophic 7
Fahed et al. 2020
Pedigree with 10 affected members; 3 mol...
613690.G.4
Lebanon
4
Pathogenic
Cardiomyopathy, Familial Hypertrophic 7
Fahed et al. 2020
Pedigree with 9 affected members; 4 mole...
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Contributors
Pratibha Nair: 20.09.2020
Edit History
Pratibha Nair: 20.09.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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