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NM_006565.4:c.1670_1674delGTTCT
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NM_006565.4:c.1670_1674delGTTCT
HGVS Expressions
NG_033892.1:g.71115_71119del
NM_006565.4:c.1670_1674delGTTCT
NP_006556.1:p.Val556_Cys557insTer
Associated Genes
CCCTC-Binding Factor
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Genomic Location
chr16:67628521-67628525
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
886041901
Clinvar
280753
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615502.1
Lebanon
1
Pathogenic
Mental Retardation, Autosomal Dominant 21
Nair et al. 2018
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Contributors
Pratibha Nair: 16.04.2020
Edit History
Sayeeda Hana: 27.09.2020
Pratibha Nair: 16.04.2020
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Algeria
Bahrain
Comoros
Country not specified
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Mauritania
Morocco
Oman
Palestine
Qatar
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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