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NM_006892.4:c.2477G>A
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NM_006892.4:c.2477G>A
HGVS Expressions
NG_007290.1:g.50434G>A
NM_006892.4:c.2477G>A
NP_008823.1:p.Arg826His
Associated Genes
DNA Methyltransferase 3B
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Genomic Location
chr20:32807818
Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
756972254
Clinvar
1026466
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
242860.1
Lebanon
2
Pathogenic
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Mehawej et al, 2020
The patient had a similarly affected old...
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Contributors
Sayeeda Hana: 15.10.2020
Edit History
Sami Bizzari: 06.06.2021
Sayeeda Hana: 15.10.2020
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Arab Countries with reported incidence
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