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NM_018136.5:c.9686_9690del
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NM_018136.5:c.9686_9690del
HGVS Expressions
NG_015867.1:g.61356_61360del
NM_018136.5:c.9686_9690del
NP_060606.3:p.Ile3229fs
NC_000001.11:g.197090338_197090342del
Associated Genes
Abnormal Spindle-Like, Microcephaly-Associated
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
199422193
Clinvar
21633
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
608716.6.1
Lebanon
2
Likely Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Passemard et al. 2009
Proband
608716.6.2
Lebanon
2
Likely Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Passemard et al. 2009
Sibling of 608716.6.1
608716.6.3
Lebanon
2
Likely Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Passemard et al. 2009
Sibling of 608716.6.1
608716.6.4
Lebanon
2
Likely Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Passemard et al. 2009
Sibling of 608716.6.1
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Contributors
Pratibha Nair: 11.07.2021
Edit History
Pratibha Nair: 11.07.2021
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
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Jordan
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Libya
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Morocco
Oman
Palestine
Qatar
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Arab Countries with reported incidence
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