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NM_000070.2:c.257C>T
Home
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
dbSNP
121434546
Clinvar
17616
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
253600.2.1
Lebanon
1
Pathogenic
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Richard et al. 1997
253600.2.2
Lebanon
1
Pathogenic
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Richard et al. 1997
Brother of patient 253600.2.1.
253600.2.3
Lebanon
2
Pathogenic
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Richard et al. 1997
cousin of patient 253600.2.1.
253600.2.4
Lebanon
2
Pathogenic
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Richard et al. 1997
cousin of patient 253600.2.1.
253600.2.5
Lebanon
1
Pathogenic
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Richard et al. 1997
Second cousin of patient 253600.2.1.
253600.2.G.2
Lebanon
7
Richard et al. 1997
7 unaffected relatives of 253600.2 who e...
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Contributors
Sami Bizzari: 06.01.2021
Edit History
Sami Bizzari: 06.01.2021
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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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