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NM_201253.3:c.4121_4130del
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NM_201253.3:c.4121_4130del
HGVS Expressions
NG_008483.2:g.281318_281327del
NM_201253.3:c.4121_4130del
NP_957705.1:p.Ala1374fs
Associated Genes
Crumbs, Drosophila, Homolog of, 1
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Genomic Location
chr1:197477779-197477788
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
281865175
Clinvar
5740
Epidemiology in the Arab World
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Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613835.G.1
Palestine
Pathogenic
Leber Congenital Amaurosis 8
Gerber et al. 2002
Group consisting of affected members fro...
613835.G.6
Palestine
Pathogenic
Leber Congenital Amaurosis 8
Beryozkin et al. 2013
Group consisting of affected members fro...
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Contributors
Sayeeda Hana: 11.08.2019
Edit History
Sayeeda Hana: 26.09.2020
Sayeeda Hana: 14.08.2019
Sayeeda Hana: 11.08.2019
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