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NM_183059.2:c.137_138del
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NM_183059.2:c.137_138del
HGVS Expressions
NG_013042.1:g.16639_16640del
NM_183059.2:c.137_138del
NP_898882.1:p.Glu46AlafsTer26
NC_000001.11:g.211481279_211481280del
Associated Genes
Retinal Degeneration 3
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
786205149
Clinvar
189793
Epidemiology in the Arab World
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Algeria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
610612.4.1
Algeria
2
Pathogenic
Leber Congenital Amaurosis 12
Perrault et al. 2013
No other relatives reported.
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Contributors
Sami Bizzari: 14.01.2021
Edit History
Sami Bizzari: 29.04.2021
Sami Bizzari: 14.01.2021
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Algeria
Bahrain
Comoros
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Arab Countries with reported incidence
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