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NM_006031.5:c.1042G>T
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NM_006031.5:c.1042G>T
HGVS Expressions
NG_008961.1:g.29900G>T
NM_006031.5:c.1042G>T
NP_006022.3:p.Glu348Ter
NC_000021.9:g.46349021G>T
Associated Genes
Pericentrin
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CTGA Clinical Significance
Uncertain Significance
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
210720.1.1
Iraq
2
NA
Uncertain Significance
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Rauch et al. 2008
Patient 'P16' in the publication
210720.1.2
Iraq
1
NA
Rauch et al. 2008
Father of 210720.1.1
210720.1.3
Iraq
1
NA
Rauch et al. 2008
Mother of 210720.1.1
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Contributors
Edit History
Asha Deepthi: 10.03.2021
Asha Deepthi: 31.12.2018
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
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Iraq
Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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