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NM_020366.4:c.2876del
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NM_020366.4:c.2876del
HGVS Expressions
NG_008933.2:g.52707del
NM_020366.4:c.2876del
NP_065099.3:p.Lys959ArgfsTer42
NC_000014.9:g.21327788del
Associated Genes
Retinitis Pigmentosa GTPase Regulator-Interacting Protein
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613826.9
Saudi Arabia
2
Likely Pathogenic
Leber Congenital Amaurosis 6
Patel et al. 2016
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Contributors
Sayeeda Hana: 01.08.2024
Edit History
Sayeeda Hana: 01.08.2024
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