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NM_016247.4:c.533+4_533+7del
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NM_016247.4:c.533+4_533+7del
HGVS Expressions
NG_028284.1:g.34101_34104del
NM_016247.4:c.533+4_533+7del
NP_057331.2:p.?
NC_000003.12:g.101291475_101291478del
Associated Genes
Interphotoreceptor Matrix Proteoglycan 2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
1707008452
Clinvar
813053
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
613581.4.1
United Arab Emirates
2
Likely Pathogenic
Retinitis Pigmentosa 56
Khan and Al Teneiji. 2019
613581.4.2
United Arab Emirates
1
Khan and Al Teneiji. 2019
Father of 613581.4.1
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Contributors
Pratibha Nair: 20.04.2021
Edit History
Pratibha Nair: 04.01.2023
Pratibha Nair: 28.11.2022
Pratibha Nair: 31.10.2022
Rahila Mir: 10.02.2022
Pratibha Nair: 20.04.2021
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