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NM_173660.5:c.1457dup
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NM_173660.5:c.1457dup
HGVS Expressions
NG_013072.2:g.35138dup
NM_173660.5:c.1457dup
NP_775931.3:p.Ala487GlyfsTer32
NC_000004.12:g.3493443dup
Associated Genes
Downstream of Tyrosine Kinase 7
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Duplication
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
254300.1
United Arab Emirates
1
Likely Pathogenic
Myasthenic Syndrome, Congenital, 10
Al-Shamsi et al. 2016
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Contributors
Pratibha Nair: 27.07.2020
Edit History
Pratibha Nair: 03.01.2023
Pratibha Nair: 29.11.2022
Pratibha Nair: 23.08.2022
Rahila Mir: 17.02.2022
Pratibha Nair: 27.07.2020
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