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NM_014797.2:c.396_397del
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NM_014797.2:c.396_397del
HGVS Expressions
NG_029388.1:g.6607_6608del
NM_014797.2:c.396_397del
NP_055612.2:p.His132fs
NC_000006.12:g.109481631_109481632del
Associated Genes
Zinc Finger And BTB Domain Containing 24
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Clinvar Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1562305058
Clinvar
40181
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614069.1.1
Lebanon
2
NA
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chouery et al., 2012
Brother of 614069.1.2 & 614069.1.3 (On k...
614069.1.2
Lebanon
2
NA
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chouery et al., 2012
Brother of 614069.1.1 & 614069.1.3 (On k...
614069.1.3
Lebanon
2
NA
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chouery et al., 2012
Brother of 614069.1.1 & 614069.1.2 (On k...
614069.1.4
Lebanon
1
NA
Chouery et al., 2012
Father of 614069.1.1, 614069.1.2 & 61406...
614069.1.5
Lebanon
1
NA
Chouery et al., 2012
Mother of 614069.1.1, 614069.1.2 & 61406...
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Contributors
Asha Deepthi: 24.07.2019
Edit History
Asha Deepthi: 28.03.2021
Asha Deepthi: 24.07.2019
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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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