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NM_006565.4:c.615_618del
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NM_006565.4:c.615_618del
HGVS Expressions
NG_033892.1:g.54041_54044del
NM_006565.4:c.615_618del
NP_006556.1:p.Lys206ProfsTer15
NC_000016.10:g.67611447_67611450del
Associated Genes
CCCTC-Binding Factor
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
1555534147
Clinvar
521287
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
615502.2
United Arab Emirates
1
NA
Likely Pathogenic
Mental Retardation, Autosomal Dominant 21
Bastaki et al. 2017
Mutation identified in proband is de nov...
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Contributors
Asha Deepthi: 13.07.2021
Edit History
Asha Deepthi: 13.07.2021
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Algeria
Bahrain
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United Arab Emirates
Yemen
Arab Countries with reported incidence
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