NM_000875.5:c.119G>T

HGVS Expressions

  • NG_009492.1:g.63055G>T
  • NM_000875.5:c.119G>T
  • NP_000866.1:p.Arg40Leu
  • NC_000015.10:g.98707586G>T
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Clinvar Clinical Significance

Pathogenic, Protective

Variant Type

Substitution

Clinvar

446756

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270450.1.1Lebanon2NAInsulin-like Growth Factor I, Resistance toGannagé-Yared MH et al. 2012 Proband
270450.1.2Lebanon1NAGannagé-Yared MH et al. 2012 Father of 270450.1.1
270450.1.3Lebanon1NAGannagé-Yared MH et al. 2012 Mother of 270450.1.1
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