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NM_014975.3:c.3539T>G
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NM_014975.3:c.3539T>G
HGVS Expressions
NG_054729.1:g.44766T>G
NM_014975.3:c.3539T>G
NP_055790.1:p.Leu1180Arg
NC_000019.10:g.12873696T>G
Associated Genes
Microtubule-Associated Serine/Threonine Kinase 1
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
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
612256.1
United Arab Emirates
1
Likely Pathogenic
Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
Ben-Mahmoud et al. 2020
Proband with de novo mutation
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Contributors
Asha Deepthi: 08.04.2021
Edit History
Pratibha Nair: 15.11.2022
Pratibha Nair: 02.06.2022
Asha Deepthi: 08.04.2021
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