NM_177550.5:c.1227dup

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  2. NM_177550.5:c.1227dup

HGVS Expressions

  • NG_034220.1:g.25330dup
  • NM_177550.5:c.1227dup
  • NP_808218.1:p.Ile410HisfsTer13
  • NC_000017.11:g.6693092dup

Associated Genes

Solute Carrier Family 13 (Sodium-Dependent Citrate Transporter), Member 5
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

1057518299

Clinvar

373238

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615905.1Saudi Arabia2PathogenicDevelopmental and Epileptic Encephalopathy 25 with Amelogenesis ImperfectaMonies et al. 2017
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Contributors

  • Asha Deepthi: 25.09.2024

Edit History

  • Asha Deepthi: 25.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.