NM_001128590.3:c.979C>T

HGVS Expressions

  • NG_045215.1:g.2764C>T
  • NM_001128590.3:c.979C>T
  • NP_001122062.3:p.Arg327Trp
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Genomic Location

Chr6: 32040535

Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

7769409

Clinvar

12152

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
201910.4Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
201910.8Tunisia2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004
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