NM_153218.4:c.850T>C

HGVS Expressions

  • NG_053160.1:g.10046T>C
  • NM_153218.4:c.850T>C
  • NP_694950.2:p.Cys284Arg
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Genomic Location

chr13:43883879

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

180673

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618795.2.1Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015
618795.2.2Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015 Sister of 618795.2.1
618795.2.3Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015 Sister of 618795.2.1
618795.2.4Saudi Arabia1Wakil et al. 2015 Father of 618795.2.1
618795.2.5Saudi Arabia1Wakil et al. 2015 Mother of 618795.2.1
618795.3.1Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015
618795.3.2Saudi Arabia1Wakil et al. 2015 Father of 618795.3.1
618795.3.3Saudi Arabia1Wakil et al. 2015 Mother of 618795.3.1
618795.3.4Saudi Arabia1Wakil et al. 2015 Sister of 618795.3.1
618795.4.1Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015
618795.4.2Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015 Sister of 618795.4.1
618795.4.3Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015 Sister of 618795.4.1
618795.4.4Saudi Arabia1Wakil et al. 2015 Father of 618795.4.1
618795.4.5Saudi Arabia1Wakil et al. 2015 Mother of 618795.4.1
618795.4.6Saudi Arabia1Wakil et al. 2015 Brother of 618795.4.1
618795.5.1Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015
618795.5.2Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015 Sister of 618795.5.1
618795.5.3Saudi Arabia1Wakil et al. 2015 Father of 618795.5.1
618795.6.1Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015
618795.6.2Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015 Sister of 618795.6.1
618795.6.3Saudi Arabia1Wakil et al. 2015 Father of 618795.6.1
618795.7.1Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015
618795.7.2Saudi Arabia2PathogenicJuvenile ArthritisWakil et al. 2015 Sister of 618795.7.1
618795.7.3Saudi Arabia1Wakil et al. 2015 Father of 618795.7.1
618795.7.4Saudi Arabia1Wakil et al. 2015 Mother of 618795.7.1
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