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NM_018136.5:c.7781_7782del
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NM_018136.5:c.7781_7782del
HGVS Expressions
NG_015867.1:g.50226_50227del
NM_018136.5:c.7781_7782del
NP_060606.3:p.Lys2595SerfsTer6
NC_000001.11:g.197101469_197101470del
Associated Genes
Abnormal Spindle-Like, Microcephaly-Associated
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
199422173
Clinvar
21606
Epidemiology in the Arab World
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Algeria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
608716.1.1
Algeria
1
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Saadi et al. 2009
608716.1.2
Algeria
1
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Saadi et al. 2009
Sibling of 608716.1.1
608716.1.3
Algeria
1
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Saadi et al. 2009
Sibling of 608716.1.1
608716.1.5
Algeria
1
Pathogenic
Saadi et al. 2009
Father of 608716.1.1
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Contributors
Pratibha Nair: 05.08.2020
Edit History
Pratibha Nair: 21.11.2022
Sayeeda Hana: 05.10.2020
Pratibha Nair: 06.09.2020
Pratibha Nair: 05.08.2020
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Algeria
Bahrain
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Arab Countries with reported incidence
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