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NM_201253.3:c.2234C>T
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NM_201253.3:c.2234C>T
HGVS Expressions
NG_008483.2:g.231098C>T
NM_201253.3:c.2234C>T
NP_957705.1:p.Thr745Met
NC_000001.11:g.197427559C>T
Associated Genes
Crumbs, Drosophila, Homolog of, 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
28939720
Clinvar
5733
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600105.5
United Arab Emirates
2
Likely Pathogenic
Retinitis Pigmentosa 12
Khan. 2020
613835.4
United Arab Emirates
2
Likely Pathogenic
Leber Congenital Amaurosis 8
Khan. 2020
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Contributors
Asha Deepthi: 19.05.2021
Edit History
Asha Deepthi: 19.05.2021
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