NM_014363.6:c.3391C>T

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  2. NM_014363.6:c.3391C>T

HGVS Expressions

  • NG_012342.1:g.98218C>T
  • NM_014363.6:c.3391C>T
  • NP_055178.3:p.Leu1131Phe

Associated Genes

Sacsin
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Genomic Location

chr13:23340485

Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

139805032

Clinvar

240899

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270550.1Lebanon2Likely PathogenicSpastic Ataxia, Charlevoix-Saguenay TypeJalkh et al. 2019
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Contributors

  • Pratibha Nair: 17.11.2020

Edit History

  • Pratibha Nair: 17.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.