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NM_001163435.3:c.831_832insTA
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NM_001163435.3:c.831_832insTA
HGVS Expressions
NG_034057.3:g.74445_74446insTA;
NC_000004.12:g.106247239_106247240insAT
NM_001163435.3:c.831_832insTA
NP_001277697.2:p.Pro106fs
Associated Genes
TBC1 Domain-Containing Kinase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Insertion
dbSNP
869320769
Clinvar
225238
Epidemiology in the Arab World
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Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
616900.4
Syria
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3
Bhoj et al. 2016
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Contributors
Sayeeda Hana: 07.01.2021
Edit History
Sayeeda Hana: 07.01.2021
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Bahrain
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Arab Countries with reported incidence
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