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NM_006096.4:c.761del
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NM_006096.4:c.761del
HGVS Expressions
NG_007943.1:g.54335del
NM_006096.4:c.761del
NP_006087.2:p.Pro254LeufsTer67
NC_000008.11:g.133247923del
Associated Genes
N-Myc Downstream-Regulated Gene 1
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
Clinvar
3362561
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
601455.1
Saudi Arabia
2
Likely Pathogenic
Charcot-Marie-Tooth Disease, Demyelinating, Type 4D
Monies et al. 2017
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Contributors
Asha Deepthi: 28.11.2024
Edit History
Asha Deepthi: 28.11.2024
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