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NM_016247.4:c.189dup
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NM_016247.4:c.189dup
HGVS Expressions
NG_028284.1:g.5847dup
NM_016247.4:c.189dup
NP_057331.2:p.Gln64ThrfsTer9
NC_000003.12:g.101319731dup
Associated Genes
Interphotoreceptor Matrix Proteoglycan 2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Duplication
dbSNP
2058802149
Clinvar
978976
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
613581.2.1
United Arab Emirates
2
Likely Pathogenic
Retinitis Pigmentosa 56
Khan et al. 2019
613581.2.2
United Arab Emirates
2
Likely Pathogenic
Retinitis Pigmentosa 56
Khan et al. 2019
Sibling of 613581.2.1
613581.2.3
United Arab Emirates
2
Likely Pathogenic
Retinitis Pigmentosa 56
Khan et al. 2019
Sibling of 613581.2.1
613581.2.4
United Arab Emirates
2
Likely Pathogenic
Retinitis Pigmentosa 56
Khan et al. 2019
Sibling of 613581.2.1
613581.2.5
United Arab Emirates
1
Khan et al. 2019
Father of 613581.2.1
613581.2.6
United Arab Emirates
1
Khan et al. 2019
Mother of 613581.2.1
613581.3
United Arab Emirates
2
Likely Pathogenic
Retinitis Pigmentosa 56
Khan et al. 2019
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Contributors
Pratibha Nair: 20.04.2021
Edit History
Pratibha Nair: 05.01.2023
Pratibha Nair: 09.11.2022
Rahila Mir: 10.02.2022
Pratibha Nair: 20.04.2021
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