NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA

HGVS Expressions

  • NG_032971.1:g.32476_53457delinsAATTAAGGTATA
  • NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA
  • NC_000009.12:g.105722000_105742981delinsAATTAAGGTATA
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Clinvar

39494

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615066.1.1Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type XIVMaddirevula et al. 2018
615066.1.2Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type XIVMaddirevula et al. 2018 Relative of 615066.1.1
615066.2Saudi Arabia2NAPathogenicOsteogenesis Imperfecta, Type XIVMaddirevula et al. 2018
615066.G.1Saudi Arabia8NAPathogenicOsteogenesis Imperfecta, Type XIVMaddirevula et al. 2018 Four related patients
615066.G.2Saudi Arabia8NAPathogenicOsteogenesis Imperfecta, Type XIVMaddirevula et al. 2018 Four related patients
615066.G.3Palestine20NAPathogenicOsteogenesis Imperfecta, Type XIVVolodarsky et al. 2013 10 patients from three families.
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