NM_182961.4:c.18658C>A

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HGVS Expressions

  • NG_012855.2:g.373198C>A
  • NM_182961.4:c.18658C>A
  • NP_892006.3:p.Arg6220Cys

Associated Genes

Spectrin Repeat-Containing Nuclear Envelope Protein 1
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Genomic Location

chr6:152269202

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

201685248

Clinvar

290091

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612999.1Lebanon1Likely PathogenicJalkh et al. 2019
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Contributors

  • Pratibha Nair: 02.11.2020

Edit History

  • Pratibha Nair: 02.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.