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NM_018136.5:c.1138C>T
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NM_018136.5:c.1138C>T
HGVS Expressions
NG_015867.1:g.8581C>T
NM_018136.5:c.1138C>T
NP_001193775.1:p.Gln380Ter
NC_000001.11:g.197143114G>A
Associated Genes
Abnormal Spindle-Like, Microcephaly-Associated
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
587783215
Clinvar
157777
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
608716.8.1
Saudi Arabia
2
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Shaheen et al. 2019
608716.8.2
Saudi Arabia
2
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Shaheen et al. 2019
Sibling of 608716.8.1
608716.12
Saudi Arabia
2
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Shaheen et al. 2019
608716.14.1
Saudi Arabia
2
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Shaheen et al. 2019
608716.14.2
Saudi Arabia
2
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Shaheen et al. 2019
Sibling of 608716.14.1
608716.15
Saudi Arabia
2
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Shaheen et al. 2019
608716.17
Saudi Arabia
2
Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Shaheen et al. 2019
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Contributors
Sayeeda Hana: 15.11.2021
Edit History
Sayeeda Hana: 16.11.2021
Sayeeda Hana: 15.11.2021
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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