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NM_001257966.1:c.1842delT
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NM_001257966.1:c.1842delT
HGVS Expressions
NG_008483.2:g.225209delT
NM_001257966.1:c.1842delT
NP_001244895.1:p.Gly614Glyfs*6
Associated Genes
Crumbs, Drosophila, Homolog of, 1
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Genomic Location
chr1:197421670
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
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.4
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
Rahila Mir: 17.02.2022
Sayeeda Hana: 14.08.2019
Sayeeda Hana: 11.08.2019
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Algeria
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Comoros
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Mauritania
Morocco
Oman
Palestine
Qatar
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United Arab Emirates
Yemen
Arab Countries with reported incidence
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