NM_001128590.3:c.865C>T

HGVS Expressions

  • NG_045215.1:g.2650C>T
  • NM_001128590.3:c.865C>T
  • NP_001122062.3:p.Gln289Ter
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Genomic Location

Chr6:32040421

Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

7755898

Clinvar

12169

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
201910.3Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
201910.4Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
201910.5Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
201910.6Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote with a large delet...
201910.9Tunisia2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004
201910.11Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygous with a small gene ...
201910.13Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
201910.14Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
201910.15.1Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.15.2Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Sibling of 201910.15.1
201910.16Palestine1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Compound heterozygote
201910.21Lebanon1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Carries the CL6 haplotype and two additi...
201910.G.1Tunisia14PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 7 unrelated patients
201910.G.2Tunisia6PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 3 unrelated patients
201910.G.3Tunisia6PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 3 unrelated patients
201910.G.6Tunisia3PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 3 unrelated patients; Compound heterozyg...
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