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NM_004006.3:c.3389A>G
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NM_004006.3:c.3389A>G
HGVS Expressions
NG_012232.1:g.881128A>G
NM_004006.3:c.3389A>G
NP_003997.2:p.Glu1130Gly
NC_000023.11:g.32463482T>C
Associated Genes
Dystrophin
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CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
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
310200.4
Saudi Arabia
Uncertain Significance
Muscular Dystrophy, Duchenne Type
Monies et al. 2017
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Contributors
Asha Deepthi: 05.11.2024
Edit History
Asha Deepthi: 05.11.2024
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