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NM_032504.1:c.520C>T
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NM_032504.1:c.520C>T
HGVS Expressions
NG_051361.1:g.10555C>T
NM_032504.1:c.520C>T
NP_115893.1:p.Arg174Ter
Associated Genes
UNC80 Homolog, NALCN Channel Complex Subunit
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Genomic Location
chr2:209777479
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
751913925
Clinvar
684713
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
616801.3.1
Saudi Arabia
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
Bramswig et al. 2018
Two older similarly affected siblings di...
616801.3.2
Saudi Arabia
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
Bramswig et al. 2018
Sibling of 616801.3.1
616801.3.3
Saudi Arabia
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
Bramswig et al. 2018
Relative of 616801.3.1
616801.3.4
Saudi Arabia
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
Bramswig et al. 2018
Sibling of 616801.3.3
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Contributors
Pratibha Nair: 30.09.2020
Edit History
Pratibha Nair: 30.09.2020
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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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