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NM_003906.5:c.2609T>C
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NM_003906.5:c.2609T>C
HGVS Expressions
NG_033881.1:g.19903T>C
NM_003906.5:c.2609T>C
NP_003897.2:p.Leu870Ser
Associated Genes
Minichromosome Maintenance 3-Associated Protein
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Genomic Location
chr21:46270420
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1569074977
Clinvar
562054
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
603294.1.1
Lebanon
2
Pathogenic
Peripheral Neuropathy, Autosomal Recessive, with or without Impaired Intellectual Development
Kennerson et al. 2018
603294.1.2
Lebanon
2
Pathogenic
Peripheral Neuropathy, Autosomal Recessive, with or without Impaired Intellectual Development
Kennerson et al. 2018
Sibling of 603294.1.1
603294.1.3
Lebanon
2
Pathogenic
Peripheral Neuropathy, Autosomal Recessive, with or without Impaired Intellectual Development
Kennerson et al. 2018
Sibling of 603294.1.1
603294.1.4
Lebanon
1
Pathogenic
Kennerson et al. 2018
Mother of 603294.1.1
603294.1.5
Lebanon
1
Pathogenic
Kennerson et al. 2018
Father of 603294.1.1
Download Table
Contributors
Pratibha Nair: 24.09.2020
Edit History
Pratibha Nair: 24.09.2020
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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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