NM_001128590.3:c.203-13C>G

HGVS Expressions

  • NG_045215.1:g.1310C>G
  • NM_001128590.3:c.203-13C>G
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Genomic Location

Chr6:32039081

Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

6467

Clinvar

12155

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
201910.5Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
201910.7Tunisia1PathogenicAdrenal 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
201910.13Tunisia1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 Compound heterozygote
201910.16Palestine1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Compound heterozygote
201910.17Lebanon1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Compound heterozygote
201910.18Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.19.1Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.19.2Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Sister of 201910.19.1
201910.20.1Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.20.2Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Brother of 201910.20.1
201910.23.1Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.23.2Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Sister of 201910.23.1
201910.23.3Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Sister of 201910.23.1
201910.24Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.26Lebanon1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Compound heterozygous with a gene conversion
201910.27Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.28.1Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.28.2Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Sibling of 201910.28.1
201910.G.4Tunisia10PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 5 unrelated patients
201910.G.5Tunisia4PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyKharrat et al. 2004 2 unrelated patients
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