NM_007055.4:c.[1909+22G>A;3337-11T>C]

HGVS Expressions

  • NG_029648.1:g.[25026G>A;50518T>C]
  • NM_007055.4:c.[1909+22G>A;3337-11T>C]
  • NC_000010.11:g.[78009515C>T;77984023A>G]
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Haplotype

Clinvar

805934

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
264090.1.1Palestine1PathogenicProgeroid Syndrome, NeonatalAkawi et al. 2013; Paolacci et al. 2018
264090.1.2Palestine1PathogenicProgeroid Syndrome, NeonatalAkawi et al. 2013; Paolacci et al. 2018 Sister of 264090.1.1
264090.1.3Palestine1PathogenicProgeroid Syndrome, NeonatalAkawi et al. 2013; Paolacci et al. 2018 Brother of 264090.1.1
264090.1.4Palestine2Akawi et al. 2013; Paolacci et al. 2018 Father of 264090.1.1. The authors noted ...
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