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NM_000747.3:c.865G>A
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NM_000747.3:c.865G>A
HGVS Expressions
NG_008026.1:g.14255G>A
NM_000747.3:c.865G>A
NP_000738.2:p.Val289Met
NC_000017.11:g.7454341G>A
Associated Genes
Cholinergic Receptor, Nicotinic, Beta Polypeptide 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
137852810
Clinvar
18372
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
616313.1
United Arab Emirates
1
Likely Pathogenic
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Al-Shamsi et al. 2016
Father had paranoid schizophrenia
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Contributors
Pratibha Nair: 08.06.2020
Edit History
Pratibha Nair: 12.01.2023
Sayeeda Hana: 27.11.2022
Pratibha Nair: 23.08.2022
Pratibha Nair: 08.06.2020
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