NM_004423.4:c.903G>C

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HGVS Expressions

  • NG_046860.1:g.15955G>C
  • NM_004423.4:c.903G>C
  • NP_004414.3:p.Gln301His
  • NC_000003.12:g.184166265G>C

Associated Genes

Dishevelled 3
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

3233373

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616894.1Saudi Arabia1Likely PathogenicRobinow Syndrome, Autosomal Dominant 3Monies et al. 2017
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Contributors

  • Asha Deepthi: 03.01.2025

Edit History

  • Asha Deepthi: 03.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.