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NM_201253.2:c.1772_1775del
Home
NM_201253.2:c.1772_1775del
HGVS Expressions
NG_008483.2:g.225139_225142del
NM_201253.2:c.1772_1775del
NP_957705.1:p.Cys591SerfsTer29
NC_000001.11:g.197421600_197421603del
Associated Genes
Crumbs, Drosophila, Homolog of, 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1664325377
Clinvar
867150
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600105.1.1
Lebanon
2
Pathogenic
Retinitis Pigmentosa 12
Jalkh et al, 2014
600105.1.2
Lebanon
2
Pathogenic
Retinitis Pigmentosa 12
Jalkh et al, 2014
Mother of 600105.1.1
600105.1.3
Lebanon
2
Pathogenic
Retinitis Pigmentosa 12
Jalkh et al, 2014
Maternal aunt of 600105.1.1
600105.1.4
Lebanon
1
Pathogenic
Retinitis Pigmentosa 12
Jalkh et al, 2014
Paternal uncle of 600105.1.1
613835.1.1
Lebanon
1
Pathogenic
Leber Congenital Amaurosis 8
Jalkh et al, 2014
Father of 600105.1.1
613835.1.2
Lebanon
1
Pathogenic
Leber Congenital Amaurosis 8
Jalkh et al, 2014
Paternal aunt of 600105.1.1
613835.1.3
Lebanon
1
Pathogenic
Leber Congenital Amaurosis 8
Jalkh et al, 2014
Paternal uncle of 600105.1.1
613835.1.4
Lebanon
1
Pathogenic
Leber Congenital Amaurosis 8
Jalkh et al, 2014
Paternal uncle of 600105.1.1
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Contributors
Sayeeda Hana: 11.08.2019
Edit History
Pratibha Nair: 21.11.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 09.06.2021
Sayeeda Hana: 14.08.2019
Sayeeda Hana: 11.08.2019
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Qatar
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Arab Countries with reported incidence
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