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NM_002180.2:c.2316C>T
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NM_002180.2:c.2316C>T
HGVS Expressions
NG_007976.1:g.37946C>T
NM_002180.2:c.2316C>T
NP_002171.2:p.Ser772=
NC_000011.10:g.68936796C>T
Associated Genes
Immunoglobulin MU-Binding Protein 2
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Clinvar Clinical Significance
Benign
CTGA Clinical Significance
Benign
Variant Type
Substitution
dbSNP
546382
Clinvar
258570
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
600502.1.1
Lebanon
2
Benign
Viollet et al. 2002
Patient exhibits distal spinal muscular ...
600502.1.G
Lebanon
2
Benign
Viollet et al. 2002
Two unaffected female relatives of 60005...
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Contributors
Sami Bizzari: 09.06.2021
Edit History
Sami Bizzari: 09.06.2021
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