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NM_001206999.2:c.753+3A>T
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NM_001206999.2:c.753+3A>T
HGVS Expressions
NG_029792.1:g.49524A>T
NM_001206999.2:c.753+3A>T
NC_000012.12:g.119832768T>A
Associated Genes
Citron Rho-Interacting Serine/Threonine Kinase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
886037895
Clinvar
254139
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
617090.2
Saudi Arabia
2
Pathogenic
Microcephaly 17, Primary, Autosomal Recessive
Shaheen et al. 2019;
Shaheen et al. 2016a
617090.G.1
Saudi Arabia
8
NA
Pathogenic
Microcephaly 17, Primary, Autosomal Recessive
Basit et al. 2016
Four siblings including identical twins ...
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Contributors
Sayeeda Hana: 21.11.2021
Edit History
Asha Deepthi: 01.11.2022
Sayeeda Hana: 21.11.2021
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