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NM_016247.4:c.2274G>A
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NM_016247.4:c.2274G>A
HGVS Expressions
NG_028284.1:g.81519G>A
NM_016247.4:c.2274G>A
NP_057331.2:p.Trp758Ter
Associated Genes
Interphotoreceptor Matrix Proteoglycan 2
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Genomic Location
chr3:101244057
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
786205564
Clinvar
191180
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613581.1
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 56
Patel et al, 2018
613581.6
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 56
Patel et al. 2016
613581.G.1
Saudi Arabia
6
Pathogenic
Retinitis Pigmentosa 56
Patel et al, 2018
3 members of a family
613581.G.3
Saudi Arabia
4+
Pathogenic
Retinitis Pigmentosa 56
Patel et al. 2016
Family with unknown number of affected m...
613581.G.4
Saudi Arabia
4+
Pathogenic
Retinitis Pigmentosa 56
Patel et al. 2016
Family with unknown number of affected m...
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Contributors
Sayeeda Hana: 15.06.2020
Edit History
Sayeeda Hana: 21.08.2024
Sayeeda Hana: 15.08.2024
Sayeeda Hana: 14.08.2024
Sayeeda Hana: 17.06.2020
Sayeeda Hana: 15.06.2020
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Algeria
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Country not specified
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Libya
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Morocco
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Palestine
Qatar
Saudi Arabia
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Tunisia
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Yemen
Arab Countries with reported incidence
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