NM_032470.3:c.*253G>A

HGVS Expressions

  • NG_045215.1:g.3325C>T
  • NM_032470.3:c.*253G>A
  • NP_001122062.3:p.Arg454Trp
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Genomic Location

Chr6:32041096

Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
201910.10Tunisia2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004
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