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NM_024513.4:c.2505del
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NM_024513.4:c.2505del
HGVS Expressions
NG_031955.1:g.33996del
NM_024513.4:c.2505del
NP_078789.2:p.Ala836ProfsTer80
NC_000003.12:g.45966830del
Associated Genes
FYVE And Coiled-Coil Domain Containing 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1575369255
Clinvar
660217
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
610019.1.1
Saudi Arabia
2
Pathogenic
Cataract 18
Khan et al. 2012;
Aldahmesh et al. 2012;
Patel et al. 2017
Proband
610019.1.2
Saudi Arabia
2
Pathogenic
Cataract 18
Khan et al. 2012;
Aldahmesh et al. 2012;
Patel et al. 2017
Sister of 610019.1.1
610019.1.3
Saudi Arabia
1
Khan et al. 2012;
Aldahmesh et al. 2012
Father of 610019.1.1
610019.1.4
Saudi Arabia
1
Khan et al. 2012;
Aldahmesh et al. 2012
Mother of 610019.1.1
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Contributors
Sayeeda Hana: 31.01.2023
Edit History
Sayeeda Hana: 31.01.2023
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