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NM_004713.6:c.2517_2520del
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NM_004713.6:c.2517_2520del
HGVS Expressions
NG_051075.1:g.62311_62314del
NM_004713.6:c.2517_2520del
NP_004704.3:p.Gly841ArgfsTer27
NC_000014.9:g.49795890_49795893del
Associated Genes
Nuclear Export Mediator Factor
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
619099.3.1
Egypt
2
NA
Likely Pathogenic
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Anazi et al. 2017a
619099.3.2
Egypt
2
NA
Likely Pathogenic
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Anazi et al. 2017a
Brother of 619099.3.1
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Contributors
Asha Deepthi: 28.11.2022
Edit History
Asha Deepthi: 28.11.2022
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