NM_020468.5:c.57C>A

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HGVS Expressions

  • NG_047171.1:g.5495C>A
  • NM_020468.5:c.57C>A
  • NP_722523.1:p.Asp19Glu

Associated Genes

Sorting Nexin 14
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Genomic Location

chr6:85593662

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

773712922

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616354.1Lebanon2Likely PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20Jalkh et al. 2019 Parents originate from the same village
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Contributors

  • Pratibha Nair: 28.10.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 28.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.