NM_000053.3:c.3207C>A

HGVS Expressions

  • NG_008806.1:g.72350C>A
  • NM_000053.3:c.3207C>A
  • NP_000044.2:p.His1069Gln
  • NC_000013.11:g.51944145G>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

3848

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.G.6Egypt6PathogenicAbdel Ghaffar et al. 2011 3 patients
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