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NM_000875.4:c.700G>A
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NM_000875.4:c.700G>A
HGVS Expressions
NG_009492.1:g.246853G>A
NM_000875.4:c.700G>A
NP_000866.1:p.Glu234Lys
NC_000015.10:g.98891384G>A
Associated Genes
Insulin-Like Growth Factor 1 Receptor
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Clinvar Clinical Significance
Protective
CTGA Clinical Significance
Likely Pathogenic, Protective
Variant Type
Substitution
dbSNP
1253103806
Clinvar
446755
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
270450.2.1
Lebanon
1
Likely Pathogenic
Insulin-like Growth Factor I, Resistance to
Fang et al. 2012
Proband. Onset of diabetes mellitus may ...
270450.2.2
Lebanon
1
Likely Pathogenic
Insulin-like Growth Factor I, Resistance to
Fang et al. 2012
Sister of patient 270450.2.1
270450.2.3
Lebanon
1
Protective
Fang et al. 2012
Father of patient 270450.2.1
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Contributors
Sami Bizzari: 13.01.2021
Edit History
Sami Bizzari: 13.01.2021
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