NM_001128590.3:c.92C>T

HGVS Expressions

  • NG_055451.1:g.5190C>T
  • NM_001128590.3:c.92C>T
  • NP_001122062.3:p.Pro31Leu
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Genomic Location

Chr6:32038514

Variant Type

Substitution

dbSNP

9378251

Clinvar

12153

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
201910.5Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
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