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NM_001363.5:c.5C>T
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NM_001363.5:c.5C>T
HGVS Expressions
NG_009780.1:g.5215C>T
NM_001363.5:c.5C>T
NP_001354.1:p.Ala2Val
NC_000023.11:g.154762970C>T
Associated Genes
Dyskerin
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121912303
Clinvar
38951
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
305000.G.1
United Arab Emirates
Pathogenic
Dyskeratosis Congenita, X-linked
Knight et al. 1999
Multiplex Emirati family with unknown nu...
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Contributors
Sayeeda Hana: 03.08.2022
Edit History
Sayeeda Hana: 03.08.2022
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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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