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NM_015909.3:c.409C>T
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NM_015909.3:c.409C>T
HGVS Expressions
NG_032964.1:g.27022C>T
NM_015909.3:c.409C>T
NP_056993.2:p.Arg137Trp
NC_000002.12:g.15539327G>A
Associated Genes
Neuroblastoma-Amplified Sequence
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
368085185
Clinvar
218416
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
616483.1.1
Lebanon
2
Pathogenic
Infantile Liver Failure Syndrome 2
Capo-Chichi et al, 2015;
Mégarbané et al, 2008
616483.1.2
Lebanon
2
Pathogenic
Infantile Liver Failure Syndrome 2
Capo-Chichi et al, 2015;
Mégarbané et al, 2008
Sister of 616483.1.1
616483.1.3
Lebanon
2
Pathogenic
Infantile Liver Failure Syndrome 2
Capo-Chichi et al, 2015
Brother of 616483.1.1
616483.1.4
Lebanon
1
Pathogenic
Capo-Chichi et al, 2015
Unaffected father of of 616483.1.1
616483.1.5
Lebanon
1
Pathogenic
Capo-Chichi et al, 2015
Unaffected mother of of 616483.1.1
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Contributors
Sayeeda Hana: 15.07.2019
Edit History
Pratibha Nair: 22.11.2022
Sayeeda Hana: 15.07.2019
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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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