NM_153816.6:c.809_813del

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HGVS Expressions

  • NG_047171.1:g.50798_50802del
  • NM_153816.6:c.809_813del
  • NP_722523.1:p.Ile270ArgfsTer17
  • NC_000006.12:g.85548355_85548359del

Associated Genes

Sorting Nexin 14
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616354.6Yemen2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 20Akizu et al. 2015
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Contributors

  • Sayeeda Hana: 10.08.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 10.08.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.