NM_182961.4:c.9616C>A

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HGVS Expressions

  • NG_012855.2:g.272894C>A
  • NM_182961.4:c.9616C>A
  • NP_892006.3:p.Leu3206Met
  • NC_000006.12:g.152369506G>T

Associated Genes

Spectrin Repeat-Containing Nuclear Envelope Protein 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587777426

Clinvar

135636

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
209850.3Kuwait2Likely PathogenicAutismYu et al. 2013 3 similarly affected siblings
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Contributors

  • Pratibha Nair: 12.07.2022

Edit History

  • Pratibha Nair: 12.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.