NM_001128590.3:c.629T>A

HGVS Expressions

  • NG_045215.1:g.2045T>A
  • NM_001128590.3:c.629T>A
  • NP_001122062.3:p.Met210Lys
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Genomic Location

Chr6:32039816

Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

6476

Clinvar

242688

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
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...
201910.30Lebanon1PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyDelague et al, 2000 Carries the CL6 haplotype and an additio...
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