NM_153816.6:c.912+5G>A

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HGVS Expressions

  • NG_047171.1:g.51656G>A
  • NM_153816.6:c.912+5G>A
  • NC_000006.12:g.85547501C>T

Associated Genes

Sorting Nexin 14
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1267454572

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616354.10Egypt2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20Akizu et al. 2015
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Contributors

  • Sayeeda Hana: 10.08.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 15.08.2021
  • Sayeeda Hana: 10.08.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.