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NM_018136.5:c.2389C>T
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NM_018136.5:c.2389C>T
HGVS Expressions
NG_015867.1:g.18315C>T
NM_018136.5:c.2389C>T
NP_060606.3:p.Arg797Ter
Associated Genes
Abnormal Spindle-Like, Microcephaly-Associated
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Genomic Location
chr1:197133380
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
145489194
Clinvar
4965
Epidemiology in the Arab World
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All Countries
Algeria
Lebanon
Morocco
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
608716.1.4
Algeria
1
Pathogenic
Saadi et al. 2009
Mother of 608716.1.1
608716.4
Morocco
1
Likely Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Passemard et al. 2009
608716.5
Algeria; Lebanon
1
Likely Pathogenic
Microcephaly 5, Primary, Autosomal Recessive
Passemard et al. 2009
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Contributors
Pratibha Nair: 05.08.2020
Edit History
Pratibha Nair: 11.07.2021
Pratibha Nair: 05.08.2020
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Algeria
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Comoros
Country not specified
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Morocco
Oman
Palestine
Qatar
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Sudan
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Tunisia
United Arab Emirates
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Arab Countries with reported incidence
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