NM_000618.5:c.292C>T

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HGVS Expressions

  • NG_011713.1:g.65982C>T
  • NM_000618.5:c.292C>T
  • NP_000609.1:p.Arg98Trp
  • NC_000012.12:g.102419619G>A

Associated Genes

Insulin-Like Growth Factor 1 Receptor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587779350

Clinvar

127243

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270450.3.1Saudi Arabia2PathogenicInsulin-like Growth Factor I, Resistance toShaheen et al. 2019; Shaheen et al. 2014
270450.3.2Saudi Arabia2PathogenicInsulin-like Growth Factor I, Resistance toShaheen et al. 2019; Shaheen et al. 2014 Relative of 270450.3.1
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Contributors

  • Sayeeda Hana: 28.01.2022

Edit History

  • Sayeeda Hana: 28.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.