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NM_014865.4:c.23T>C
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NM_014865.4:c.23T>C
HGVS Expressions
NM_014865.4:c.23T>C
NP_055680.3:p.Phe8Ser
NC_000012.12:g.6495121T>C
Associated Genes
Non-SMC Condensin I Complex Subunit D2
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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Iraq
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
617983.1.1
Iraq
2
Likely Pathogenic
Microcephaly 21, Primary, Autosomal Recessive
Reuter et al. 2017
Authors classified these gene variants a...
617983.1.2
Iraq
2
Likely Pathogenic
Microcephaly 21, Primary, Autosomal Recessive
Reuter et al. 2017
Relative of 617983.1.1
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Contributors
Sayeeda Hana: 17.10.2024
Edit History
Sayeeda Hana: 17.10.2024
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Arab Countries with reported incidence
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