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NM_000350.3:c.3482G>A
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NM_000350.3:c.3482G>A
HGVS Expressions
NG_009073.1:g.84901G>A
NM_000350.3:c.3482G>A
NP_000341.2:p.Arg1161His
Associated Genes
ATP-Binding Cassette, Subfamily A, Member 4
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Genomic Location
chr1:94041249
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
768278935
Clinvar
236102
Epidemiology in the Arab World
View Map
Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
601718.G.1
Syria
4
Pathogenic
Retinitis Pigmentosa 19
Patel et al, 2018
4 members of a family
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Contributors
Sayeeda Hana: 06.07.2020
Edit History
Sayeeda Hana: 06.07.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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