NM_014363.6:c.5732C>A

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HGVS Expressions

  • NG_012342.1:g.100559C>A
  • NM_014363.6:c.5732C>A
  • NP_055178.3:p.Thr1911Lys
  • NC_000013.11:g.23338144G>T

Associated Genes

Sacsin
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Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610217.1United Arab Emirates1Al-Shamsi et al. 2016 Reported with a variant in PLA2G6: UC003...
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Contributors

  • Sami Bizzari: 18.01.2023

Edit History

  • Sami Bizzari: 18.01.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.