NM_019892.6:c.1543C>T

HGVS Expressions

  • NG_016126.1:g.12975C>T
  • NM_019892.6:c.1543C>T
  • NP_063945.2:p.Arg515Trp
  • NC_000009.12:g.136431830G>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

397

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
213300.1Oman; United Arab Emirate...2PathogenicJoubert Syndrome 1Ben-Salem et al. 2014 Emirati patient of Omani origin from 'MT...
213300.2Oman; United Arab Emirate...2PathogenicJoubert Syndrome 1Bielas et al. 2009; Ben-Salem et al. 2014; Al-Gazali and Hamamy. 2014 Emirati patient of Omani origin from 'MT...
213300.G.1Oman; United Arab Emirate...10PathogenicJoubert Syndrome 1Bielas et al. 2009; Ben-Salem et al. 2014; Al-Gazali and Hamamy. 2014 Five Emirati patients of Omani origin fr...
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