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NM_018668.5:c.1019dup
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NM_018668.5:c.1019dup
HGVS Expressions
NG_012162.1:g.21899dup
NM_018668.5:c.1019dup
NP_061138.3:p.Leu340fs
Associated Genes
VPS33B Late Endosome and Lysosome Associated
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Genomic Location
chr15:91005705
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Duplication
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
208085.5
Lebanon
2
Likely Pathogenic
Arthrogryposis, Renal Dysfunction, and Cholestasis 1
Jalkh et al. 2019
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Contributors
Pratibha Nair: 24.11.2020
Edit History
Rahila Mir: 14.02.2022
Pratibha Nair: 24.11.2020
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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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