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NM_020223.4:c.957-3C>G
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NM_020223.4:c.957-3C>G
HGVS Expressions
NG_033970.1:g.57948C>G
NM_020223.4:c.957-3C>G
Associated Genes
Family with Sequence Similarity 20, Member C
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Genomic Location
chr7:248312
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
796051851
Clinvar
1026
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
259775.1
Egypt
2
Pathogenic
Raine Syndrome
Al-Gazali et al. 2003;
Simpson et al. 2007
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Contributors
Sayeeda Hana: 09.09.2020
Edit History
Sayeeda Hana: 09.09.2020
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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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