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
Back to search Result
Genomic Location

chr9:136431830

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

397

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
213300.1United Arab Emirates2PathogenicJoubert Syndrome 1Ben-Salem et al. 2014 Emirati patient of Omani origin from 'MT...
213300.2United Arab Emirates2PathogenicJoubert Syndrome 1Bielas et al. 2009 Emirati patient of Omani origin from 'MT...
213300.G.1United Arab Emirates10PathogenicJoubert Syndrome 1Bielas et al. 2009 Five Emirati patients of Omani origin fr...
© CAGS 2021. All rights reserved.