NM_022336.3:c.803+1G>A

HGVS Expressions

  • NG_008257.1:g.83914G>A
  • NM_022336.3:c.803+1G>A

Associated Genes

Ectodysplasia A Receptor
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Genomic Location

chr2:108910459

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5860

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
224900.1.1Lebanon2PathogenicEctodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal RecessiveMégarbané et al, 2008
224900.1.2Lebanon1PathogenicMégarbané et al, 2008 Mother of 224900.1.1
224900.1.3Lebanon1PathogenicMégarbané et al, 2008 Father of 224900.1.1
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