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NM_201253.3:c.2505_2508del
Home
NM_201253.3:c.2505_2508del
HGVS Expressions
NG_008483.2:g.231369_231372del
NM_201253.3:c.2505_2508del
NP_957705.1:p.Pro836ThrfsTer19
NC_000001.11:g.197427830_197427833del
Associated Genes
Crumbs, Drosophila, Homolog of, 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Uncertain Significance
Variant Type
Deletion
dbSNP
778419716
Clinvar
1446299
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
600105.4.1
United Arab Emirates
2
Likely Pathogenic
Retinitis Pigmentosa 12
Khan and El-Ghrably. 2019
Proband. This patient has two siblings w...
600105.4.2
United Arab Emirates
1
Uncertain Significance
Khan and El-Ghrably. 2019
Brother of 600105.1.1. This patient has ...
600105.4.3
United Arab Emirates
1
Uncertain Significance
Khan and El-Ghrably. 2019;
Alsalamah et al. 2020
Sister of 600105.1.1. This patient has h...
600105.4.4
United Arab Emirates
1
Khan and El-Ghrably. 2019
Mother of 600105.1.1
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Contributors
Asha Deepthi: 19.04.2021
Edit History
Pratibha Nair: 10.11.2022
Asha Deepthi: 20.04.2021
Asha Deepthi: 19.04.2021
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