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NM_006446.5:c.388A>G
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NM_006446.5:c.388A>G
HGVS Expressions
NG_011745.1:g.50611A>G
NM_006446.5:c.388A>G
NP_006437.3:p.Asn130Asp
NC_000012.12:g.21176804A>G
Associated Genes
Solute Carrier Organic Anion Transporter Family, Member 1B1
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Clinvar Clinical Significance
Benign
Variant Type
Substitution
dbSNP
2306283
Clinvar
259983
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
604843.G.1.1
United Arab Emirates
128
0.46
Saber-Ayad et al. 2018
Study with 282 Emiratis.
604843.G.1.2
United Arab Emirates
132
0.46
Saber-Ayad et al. 2018
Study with 282 Emiratis.
604843.G.2
United Arab Emirates
NA
NA
Saber-Ayad et al. 2017
Study with 282 Emirati subjects (females...
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Contributors
Asha Deepthi: 05.07.2021
Edit History
Asha Deepthi: 05.07.2022
Asha Deepthi: 05.07.2021
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