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NM_000329.3:c.95-3C>G
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NM_000329.3:c.95-3C>G
HGVS Expressions
NG_008472.2:g.8097C>G
NM_000329.3:c.95-3C>G
NP_000320.1:p.?
NC_000001.11:g.68446863G>C
Associated Genes
Retinal Pigment Epithelium-Specific Protein, 65-kD
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
204100.5.1
Yemen
2
Likely Pathogenic
Leber Congenital Amaurosis 2
Jakobsson et al. 2014
204100.5.2
Yemen
2
Likely Pathogenic
Leber Congenital Amaurosis 2
Jakobsson et al. 2014
Brother of 205100.5.1
204100.5.3
Yemen
2
Likely Pathogenic
Leber Congenital Amaurosis 2
Jakobsson et al. 2014
Sister of 205100.5.1
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Contributors
Sayeeda Hana: 02.09.2024
Edit History
Sayeeda Hana: 02.09.2024
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