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NM_024809.5:c.1506-2A>G
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NM_024809.5:c.1506-2A>G
HGVS Expressions
NG_030442.1:g.33590A>G
NM_024809.5:c.1506-2A>G
NC_000012.12:g.123699702A>G
Associated Genes
Tectonic Family, Member 2
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
374349989
Clinvar
31076
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
613885.1
Saudi Arabia
2
Pathogenic
Meckel Syndrome 8
Shaheen et al. 2011;
Shaheen et al. 2017
Subject had two sisters and a cousin wit...
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Contributors
Sayeeda Hana: 13.09.2022
Edit History
Sayeeda Hana: 13.09.2022
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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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