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NM_003159.3:c.229_232del
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NM_003159.3:c.229_232del
HGVS Expressions
NG_008475.1:g.154829GAAG[1]
NM_003159.3:c.229_232del
NP_003150.1:p.Glu77HisfsTer35
NC_000023.11:g.18575433GAAG[1]
Associated Genes
Cyclin-Dependent Kinase-Like 5
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Microsatellite
dbSNP
267608441
Clinvar
143799
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
300672.2
United Arab Emirates
1
Likely Pathogenic
Epileptic Encephalopathy, Early Infantile, 2
Saleh et al. 2021
de novo mutation
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Contributors
Pratibha Nair: 13.09.2021
Edit History
Asha Deepthi: 07.12.2022
Pratibha Nair: 13.09.2021
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