NM_001128590.3:c.754G>T

HGVS Expressions

  • NG_045215.1:g.2339G>T
  • NM_001128590.3:c.754G>T
  • NP_001122062.3:p.Val252Leu
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Genomic Location

Chr6:32040110

Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

6471

Clinvar

12151

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
201910.20.1Lebanon1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.20.2Lebanon1PathogenicAdrenal 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
201910.32Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.33Lebanon1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Compound heterozygote
201910.34Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.35.1Lebanon2PathogenicDelague et al, 2000 Brother of 201910.35.3
201910.35.2Lebanon2PathogenicDelague et al, 2000 Brother of 201910.35.3
201910.35.3Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.36Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.37Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
201910.38Lebanon2PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000
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