NM_001128590.3:c.428T>A

HGVS Expressions

  • NG_045215.1:g.1655T>A
  • NM_001128590.3:c.428T>A
  • NP_001122062.3:p.Ile143Asn
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Genomic Location

Chr6:32039426

Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

6475

Clinvar

12150

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
201910.1.1Egypt2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyGad, 2002
201910.1.2Egypt1PathogenicGad, 2002 Mother of 201910.1.1
201910.2.1Egypt2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyGad, 2002
201910.2.2Egypt1PathogenicGad, 2002 Mother of 201910.2.1
201910.14Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
201910.21Lebanon1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Carries the CL6 haplotype and two additi...
201910.25Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Carries the CL6 haplotype and an additio...
201910.29Lebanon1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Compound heterozygous with a gene conversion
201910.30Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Carries the CL6 haplotype and an additio...
201910.G.7Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 5 unrelated patients
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