NM_015180.5:c.19372G>A

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  2. NM_015180.5:c.19372G>A

HGVS Expressions

  • NG_011756.1:g.368322G>A
  • NM_015180.5:c.19372G>A
  • NP_055995.4:p.Asp6458Asn

Associated Genes

Spectrin Repeat-Containing Nuclear Envelope Protein 2
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Genomic Location

chr14:64216286

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

202052357

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612999.1Lebanon1Likely PathogenicEmery-Dreifuss Muscular Dystrophy 5, Autosomal DominantJalkh et al. 2019
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Contributors

  • Pratibha Nair: 02.11.2020

Edit History

  • Rahila Mir: 22.02.2022
  • Pratibha Nair: 02.11.2020
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.