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NM_001097642.2:c.164_184dup
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NM_001097642.2:c.164_184dup
HGVS Expressions
NG_008357.1:g.13660_13680dup
NM_001097642.2:c.164_184dup
NP_001091111.1:p.Thr55_An61dup
Associated Genes
Gap Junction Protein, Beta-1
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Genomic Location
chrX:71223871-71223891
Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
1555937071
Clinvar
477589
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
302800.1
Lebanon
1
Pathogenic
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Nair et al. 2018
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Contributors
Pratibha Nair: 29.04.2020
Edit History
Sami Bizzari: 30.05.2021
Pratibha Nair: 29.04.2020
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