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NM_000352.6:c.3641G>A
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NM_000352.6:c.3641G>A
HGVS Expressions
NG_008867.1:g.79233G>A
NM_000352.6:c.3641G>A
NP_000343.2:p.Arg1214Gln
NC_000011.10:g.17402670C>T
Associated Genes
ATP-Binding Cassette, Subfamily C, Member 8
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
367850779
Clinvar
632619
Epidemiology in the Arab World
View Map
Qatar
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600509.G.2
Qatar
2
0.009
Pathogenic
Devadoss Gandhi et al. 2024
2 individuals from a study of 14,060 Qat...
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Contributors
Sayeeda Hana: 13.11.2024
Edit History
Sayeeda Hana: 13.11.2024
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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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