NM_173483.3:c.728G>A

HGVS Expressions

  • NG_007987.1:g.36982G>A
  • NM_173483.3:c.728G>A
  • NP_775754.2:p.Arg243His
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Genomic Location

chr19:15540506

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

911

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604777.6Algeria2PathogenicIchthyosis, Congenital, Autosomal Recessive 5Lefevre et al. 2006
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