NM_000089.4:c.1747G>C

HGVS Expressions

  • NG_007405.1:g.25693G>C
  • NM_000089.4:c.1747G>C
  • NP_000080.2:p.Gly583Arg
  • NC_000007.14:g.94415253G>C
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166210.2Saudi Arabia1Likely PathogenicOsteogenesis Imperfecta, Type IIMonies et al. 2017 Test sample from fetus of unknown sex
166210.3Saudi Arabia1Likely PathogenicOsteogenesis Imperfecta, Type IIMonies et al. 2017 Test sample from fetus
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