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NM_001032221.3:c.1359+1G>A
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NM_001032221.3:c.1359+1G>A
HGVS Expressions
NG_016623.1:g.69548G>A
NM_001032221.3:c.1359+1G>A
NP_001027392.1:p.?
NC_000009.12:g.127676754G>A
Associated Genes
Syntaxin-Binding Protein 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
796053370
Clinvar
207435
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
612164.1
United Arab Emirates
1
Pathogenic
Developmental and Epileptic Encephalopathy 4
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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