NM_002180.3:c.1540G>A

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  2. NM_002180.3:c.1540G>A

HGVS Expressions

  • NM_002180.3:c.1540G>A
  • NP_002171.2:p.Glu514Lys
  • NC_000011.10:g.68934466G>A

Associated Genes

Immunoglobulin MU-Binding Protein 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

137852665

Clinvar

9112

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604320.5Lebanon2PathogenicCharcot-Marie-Tooth Disease, Axonal, Type 2SJalkh et al. 2019
604320.GLebanon12Likely PathogenicSpinal Muscular Atrophy, Distal, Autosomal Recessive, 1Megarbane et al. 2022 6 patients from 3 families. Clinical fea...
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Contributors

  • Sami Bizzari: 20.03.2023
  • Pratibha Nair: 11.11.2020

Edit History

  • Sami Bizzari: 20.03.2023
  • Pratibha Nair: 11.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.