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NM_019613.4:c.799C>T
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NM_019613.4:c.799C>T
HGVS Expressions
NG_046895.1:g.36233C>T
NM_019613.4:c.799C>T
NP_062559.2:p.Gln267Ter
NC_000017.11:g.82617303G>A
Associated Genes
Wd Repeat-Containing Protein 45B
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1555647262
Clinvar
523671
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
617977.1.1
United Arab Emirates
2
Pathogenic
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without Seizures
Suleiman et al. 2017
617977.1.2
United Arab Emirates
2
Pathogenic
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without Seizures
Suleiman et al. 2017
Sibling of 617977.1.1
617977.1.3
United Arab Emirates
2
Pathogenic
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without Seizures
Suleiman et al. 2017
Sibling of 617977.1.1
617977.1.4
United Arab Emirates
Suleiman et al. 2017
Father of 617977.1.1
617977.1.5
United Arab Emirates
1
Suleiman et al. 2017
Mother of 617977.1.1
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Contributors
Sayeeda Hana: 04.11.2021
Edit History
Pratibha Nair: 10.01.2023
Sayeeda Hana: 04.11.2021
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
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
Arab Countries without reported incidence
Non-Arab Countries
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