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NM_001142633.3:c.1885C>T
Home
NM_001142633.3:c.1885C>T
HGVS Expressions
NG_030374.1:g.83597C>T
NM_001142633.3:c.1885C>T
NP_001136105.1:p.Pro629Ser
NC_000017.11:g.8887116G>A
Associated Genes
Phosphatidylinositol 3-Kinase, Regulatory Subunit 5
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Clinvar Clinical Significance
Benign, Uncertain Significance
CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
dbSNP
61761068
Clinvar
48651
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
615217.1.1
Saudi Arabia
2
Uncertain Significance
Ataxia-Oculomotor Apraxia 3
Al Tassan et al. 2012
615217.1.2
Saudi Arabia
2
Uncertain Significance
Ataxia-Oculomotor Apraxia 3
Al Tassan et al. 2012
Brother of 615217.1.1
615217.1.3
Saudi Arabia
2
Uncertain Significance
Ataxia-Oculomotor Apraxia 3
Al Tassan et al. 2012
Sister of 615217.1.1
615217.1.4
Saudi Arabia
2
Uncertain Significance
Ataxia-Oculomotor Apraxia 3
Al Tassan et al. 2012
Sister of 615217.1.1
615217.1.G
Saudi Arabia
9
Al Tassan et al. 2012
Relatives of 615217.1.1 (parents + seven...
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Contributors
Asha Deepthi: 28.03.2023
Edit History
Asha Deepthi: 28.03.2023
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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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