NM_007055.4:c.1800C>T

HGVS Expressions

  • NG_029648.1:g.24895C>T
  • NM_007055.4:c.1800C>T
  • NP_008986.2:p.Ile600=
  • NC_000010.11:g.78009646G>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

549562

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
264090.1.5Palestine1Akawi et al. 2013; Paolacci et al. 2018 Mother of 264090.1.1.
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