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NM_004992.3:c.502C>T
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NM_004992.3:c.502C>T
HGVS Expressions
NG_007107.2:g.110802C>T
NM_004992.3:c.502C>T
NP_004983.1:p.Arg168Ter
Associated Genes
Methyl-CpG Binding Protein 2
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Genomic Location
ChrX:154031326
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
61748421
Clinvar
11828
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
312750.2
Lebanon
NA
Pathogenic
Rett Syndrome
Corbani S et al. 2012
Patient with typical Rett syndrome
312750.14
Lebanon
NA
Pathogenic
Rett Syndrome
Jalkh et al. 2019
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Contributors
Asha Deepthi: 01.05.2019
Edit History
Asha Deepthi: 01.05.2019
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
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Iraq
Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
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Somalia
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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