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NM_201253.3:c.2330_2336del
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NM_201253.3:c.2330_2336del
HGVS Expressions
NG_008483.3:g.231153_231159del
NM_201253.3:c.2330_2336del
NP_957705.1:p.Pro777LeufsTer4
NC_000001.11:g.197427655_197427661del
Associated Genes
Crumbs, Drosophila, Homolog of, 1
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
786205610
Clinvar
191264
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600105.7
Saudi Arabia
2
Likely Pathogenic
Retinitis Pigmentosa 12
Patel et al. 2016
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Contributors
Sayeeda Hana: 02.08.2024
Edit History
Sayeeda Hana: 02.08.2024
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