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NM_000377.3:c.134C>T
Home
NM_000377.3:c.134C>T
HGVS Expressions
NG_007877.1:g.5488C>T
NM_000377.3:c.134C>T
NP_000368.1:p.Thr45Met
Associated Genes
WAS Gene
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Genomic Location
chrX:48684284
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
132630273
Clinvar
11123
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
301000.2.1
Lebanon
1
Pathogenic
Wiskott-Aldrich Syndrome
Mansour et al, 2020
301000.2.2
Lebanon
1
Pathogenic
Wiskott-Aldrich Syndrome
Mansour et al, 2020
Brother of 301000.2.1
301000.2.3
Lebanon
1
Pathogenic
Wiskott-Aldrich Syndrome
Mansour et al, 2020
Brother of 301000.2.1
301000.2.4
Lebanon
1
Pathogenic
Wiskott-Aldrich Syndrome
Mansour et al, 2020
Brother of 301000.2.1
301000.2.5
Lebanon
1
Mansour et al, 2020
Mother of 301000.2.1
313900.2.1
Lebanon
1
Pathogenic
Thrombocytopenia 1
Ho et al. 2001
313900.2.2
Lebanon
1
Pathogenic
Thrombocytopenia 1
Ho et al. 2001
Sibling of 313900.2.1 and cousin to 3139...
313900.2.3
Lebanon
1
Pathogenic
Thrombocytopenia 1
Ho et al. 2001
Sibling of 313900.2.4 and cousin to 3139...
313900.2.4
Lebanon
1
Pathogenic
Thrombocytopenia 1
Ho et al. 2001
Sibling of 313900.2.3 and cousin to 3139...
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Contributors
Sayeeda Hana: 21.09.2020
Edit History
Pratibha Nair: 10.06.2021
Sayeeda Hana: 04.10.2020
Sayeeda Hana: 21.09.2020
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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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