NM_015160.3:c.1066G>A

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  2. NM_015160.3:c.1066G>A

HGVS Expressions

  • NG_046789.1:g.13058G>A
  • NM_015160.3:c.1066G>A
  • NP_055975.1:p.Gly356Ser

Associated Genes

Peptidase, Mitochondrial Processing, Alpha
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Genomic Location

chr9:136418630

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

768643552

Clinvar

221553

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
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
213200.4.3Lebanon1PathogenicJoshi et al. 2016 Mother of 213200.4.1
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Contributors

  • Pratibha Nair: 23.06.2020

Edit History

  • Pratibha Nair: 23.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.