NM_006019.3:c.1421C>A

HGVS Expressions

  • NG_007878.1:g.13747C>A
  • NM_006019.3:c.1421C>A
  • NP_006010.2:p.Ser474Ter
  • NC_000011.10:g.68047762C>A
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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
259700.3Syria20.1Likely PathogenicOsteopetrosis, Autosomal Recessive 1Souraty et al. 2007
259700.4.3Syria10.0Souraty et al. 2007 Mother of 259700.4.1 and 259700.4.2
259700.4.4Syria10.0Likely PathogenicSouraty et al. 2007 Father of 259700.4.1 and 259700.4.2
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