NM_153816.6:c.645dup

HGVS Expressions

  • NG_047171.1:g.49288dup
  • NM_153816.6:c.645dup
  • NP_001337472.1:p.Glu119fs
  • NC_000006.12:g.85549869dup

Associated Genes

Sorting Nexin 14
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

190316

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616354.9Egypt2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20Akizu et al. 2015 The patient had a similarly affected sis...
616354.11Egypt2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20Akizu et al. 2015
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