NM_015160.3:c.1129G>A

HGVS Expressions

  • NG_046789.1:g.13275G>A
  • NM_015160.3:c.1129G>A
  • NP_055975.1:p.Ala377Thr
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Genomic Location

chr9:136418847

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

221552

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
213200.1.01Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Megarbane et al. 1999; Delague et al. 2001; Jobling et al, 2015
213200.1.02Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Brother of 213200.1.01
213200.1.03Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.1.04Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.1.05Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.1.06Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.1.07Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.1.08Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.1.09Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.1.10Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.1.11Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.1.12Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Cousin of 213200.1.01
213200.2.1Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015
213200.2.2Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Brother of 213200.2.1
213200.3.1Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015
213200.3.2Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Jobling et al, 2015 Sister of 213200.3.1
213200.4.1Lebanon1PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Joshi et al. 2016
213200.4.2Lebanon1PathogenicSpinocerebellar Ataxia, Autosomal Recessive 2Joshi et al. 2016 First cousin of 213200.4.1
213200.4.4Lebanon1PathogenicJoshi et al. 2016 Father of 213200.4.1
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