NM_014231.5:c.97C>T

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HGVS Expressions

  • NG_042188.2:g.9643C>T
  • NM_014231.5:c.97C>T
  • NP_055046.1:p.Arg33Ter
  • NC_000012.12:g.6466257G>A

Associated Genes

Vesicle-Associated Membrane Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1308616721

Clinvar

1459811

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618323.1Lebanon2Likely PathogenicMyasthenic Syndrome, Congenital, 25, PresynapticNair et al. 2018
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Contributors

  • Pratibha Nair: 22.04.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 22.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.