NM_020212.2:c.280T>C

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HGVS Expressions

  • NG_051641.1:g.16953T>C
  • NM_020212.2:c.280T>C
  • NP_064597.1:p.Tyr94His
  • NC_000015.10:g.89702026T>C

Associated Genes

WD Repeat-Containing Protein 93
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882204

Clinvar

183287

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
209850.6Sudan2Likely PathogenicAutismAlazami et al. 2015 Affected brother
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Contributors

  • Pratibha Nair: 17.04.2023

Edit History

  • Pratibha Nair: 17.04.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.