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NM_006565.4:c.1699C>T
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NM_006565.4:c.1699C>T
HGVS Expressions
NG_033892.1:g.71144C>T
NM_006565.4:c.1699C>T
NP_006556.1:p.Arg567Trp
NC_000016.10:g.67628550C>T
Associated Genes
CCCTC-Binding Factor
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
879255516
Clinvar
88638
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
615502.3
United Arab Emirates
1
Pathogenic
Mental Retardation, Autosomal Dominant 21
Saleh et al. 2021
de novo mutation
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Contributors
Pratibha Nair: 13.09.2021
Edit History
Pratibha Nair: 12.01.2023
Pratibha Nair: 13.09.2021
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