NM_001128590.3:c.59G>A

HGVS Expressions

  • NG_055451.1:g.5157G>A
  • NM_001128590.3:c.59G>A
  • NP_001122062.3:p.Trp20Ter
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Genomic Location

Chr6:32038481

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
201910.12Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygous with an undetected...
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