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NM_003060.3:c.248G>T
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NM_003060.3:c.248G>T
HGVS Expressions
NG_008982.1:g.5512G>T
NM_003060.3:c.248G>T
NP_003051.1:p.Arg83Leu
NC_000005.10:g.132370220G>T
Associated Genes
Solute Carrier Family 22 (Organic Cation Transporter), Member 5
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
72552726
Clinvar
25361
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
212140.5
United Arab Emirates
2
NA
Likely Pathogenic
Carnitine Deficiency, Systemic Primary
Al-Shamsi et al. 2014
212140.8
United Arab Emirates
2
NA
Likely Pathogenic
Carnitine Deficiency, Systemic Primary
Al-Jasmi at al. 2016
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Contributors
Edit History
Pratibha Nair: 12.01.2023
Asha Deepthi: 24.06.2021
Asha Deepthi: 15.03.2021
Asha Deepthi: 12.02.2019
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