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NM_003982.4:c.1185_1188del
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NM_003982.4:c.1185_1188del
HGVS Expressions
NG_012851.2:g.60407_60410del
NM_003982.4:c.1185_1188del
NP_003973.3:p.Ser396fs
Associated Genes
Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 7
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Genomic Location
chr14:22774413-22774416
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
386833800
Clinvar
56352
Epidemiology in the Arab World
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Tunisia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
222700.2.1
Tunisia
2
Pathogenic
Lysinuric Protein Intolerance
Sperandeo et al. 2000
222700.2.2
Tunisia
2
Pathogenic
Lysinuric Protein Intolerance
Sperandeo et al. 2000
Brother of 222700.2.1
222700.3.1
Tunisia
2
Pathogenic
Lysinuric Protein Intolerance
Esseghir et al. 2011
Proband and sibling of 222700.3.2
222700.3.2
Tunisia
2
Pathogenic
Lysinuric Protein Intolerance
Esseghir et al. 2011
Lysinuric protein intolerance was prenat...
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Contributors
Edit History
Sayeeda Hana: 05.10.2020
Asha Deepthi: 13.08.2020
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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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