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NM_015922.3:c.314C>T
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NM_015922.3:c.314C>T
HGVS Expressions
NG_009163.2:g.32850C>T
NM_015922.3:c.314C>T
NP_001123237.1:p.Ala105Val
Associated Genes
NAD(P)H Steroid Dehydrogenase-Like Protein
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Genomic Location
chrX:152858816
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
104894909
Clinvar
11426
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
308050.1
Lebanon
Pathogenic
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Kurban et al, 2010b
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Contributors
Sayeeda Hana: 18.05.2020
Edit History
Sayeeda Hana: 18.05.2020
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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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