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NR_023343.1:n.13C>T
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NR_023343.1:n.13C>T
HGVS Expressions
NR_023343.1:n.13C>T
NC_000002.12:g.121530892C>T
Associated Genes
RNA, U4ATAC Small Nuclear
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
dbSNP
559979281
Clinvar
218083
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
210710.G.1
Saudi Arabia
3
NA
Uncertain Significance
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Maddirevula et al. 2018
Three related patients
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Contributors
Asha Deepthi: 14.02.2022
Edit History
Asha Deepthi: 14.02.2022
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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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