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NM_004937.3:c.681G>A
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NM_004937.3:c.681G>A
HGVS Expressions
NG_012489.2:g.25328G>A
NM_004937.3:c.681G>A
NP_004928.2:p.Glu227=
NC_000017.11:g.3656795G>A
Associated Genes
Cystinosin
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
778414542
Clinvar
553330
Epidemiology in the Arab World
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All Countries
Arab
Saudi Arabia
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
219800.3
Arab
1
Pathogenic
Cystinosis, Nephropathic
Shahkarami et al. 2013
Compound heterozygous patient 'P8' in th...
219800.4
Arab
1
Pathogenic
Cystinosis, Nephropathic
Shahkarami et al. 2013
Compound heterozygous patients 'P11' in ...
219800.10
United Arab Emirates
2
Pathogenic
Cystinosis, Nephropathic
Al-Jasmi et al. 2013
219800.G.1
Arab
16
Pathogenic
Cystinosis, Nephropathic
Shahkarami et al. 2013
8 patients of Arab origin
219800.G.2.3
Saudi Arabia
6
Pathogenic
Cystinosis, Nephropathic
Aldahmesh et al. 2009
3 patients with cystinosis
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Contributors
Edit History
Pratibha Nair: 23.08.2022
Sayeeda Hana: 01.06.2021
Asha Deepthi: 16.07.2020
Asha Deepthi: 15.07.2020
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Palestine
Qatar
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Somalia
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United Arab Emirates
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Arab Countries with reported incidence
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Non-Arab Countries
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