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NM_001079537.2:c.267+1G>A
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NM_001079537.2:c.267+1G>A
HGVS Expressions
NM_001079537.2:c.267+1G>A
NP_001073005.1:p.?
NC_000014.9:g.39158284C>T
Associated Genes
Trafficking Protein Particle Complex, Subunit 6B
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CTGA Clinical Significance
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
610397.1
United Arab Emirates
2
NA
Pathogenic
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy
Mahfouz et al. 2020
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Contributors
Asha Deepthi: 12.07.2022
Edit History
Pratibha Nair: 21.12.2022
Pratibha Nair: 30.11.2022
Asha Deepthi: 12.07.2022
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