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NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA
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NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA
HGVS Expressions
NG_032971.1:g.32476_53457delinsAATTAAGGTATA
NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA
NC_000009.12:g.105722000_105742981delinsAATTAAGGTATA
Associated Genes
Transmembrane Protein 38B
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Indel
Clinvar
39494
Epidemiology in the Arab World
View Map
All Countries
Palestine
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615066.1.1
Saudi Arabia
2
NA
Pathogenic
Osteogenesis Imperfecta, Type XIV
Maddirevula et al. 2018
615066.1.2
Saudi Arabia
2
NA
Pathogenic
Osteogenesis Imperfecta, Type XIV
Maddirevula et al. 2018
Relative of 615066.1.1
615066.2
Saudi Arabia
2
NA
Pathogenic
Osteogenesis Imperfecta, Type XIV
Maddirevula et al. 2018
615066.G.1
Saudi Arabia
8
NA
Pathogenic
Osteogenesis Imperfecta, Type XIV
Maddirevula et al. 2018
Four related patients
615066.G.2
Saudi Arabia
8
NA
Pathogenic
Osteogenesis Imperfecta, Type XIV
Maddirevula et al. 2018
Four related patients
615066.G.3
Palestine
20
NA
Pathogenic
Osteogenesis Imperfecta, Type XIV
Volodarsky et al. 2013
10 patients from three families.
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Contributors
Asha Deepthi: 25.02.2022
Edit History
Asha Deepthi: 02.03.2023
Asha Deepthi: 25.02.2022
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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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