NM_031471.6:c.48G>A

HGVS Expressions

  • NG_016360.1:g.5733G>A
  • NM_031471.6:c.48G>A
  • NP_113659.3:p.Trp16Ter
  • NC_000011.10:g.64207412G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2709

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612840.1.1United Arab Emirates2NAPathogenicLeukocyte Adhesion Deficiency, Type IIIMalinin et al. 2009 'Subject 1' in the publication
612840.1.2United Arab Emirates2NAPathogenicLeukocyte Adhesion Deficiency, Type IIIMalinin et al. 2009 'Subject 2' in the publication
612840.1.3United Arab Emirates1NAMalinin et al. 2009 Father of 612840.1.1 & 612840.1.2
612840.1.4United Arab Emirates1NAMalinin et al. 2009 Mother of 612840.1.1 & 612840.1.2
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